id stringlengths 9 17 | title stringlengths 12 274 | content list | display_content list | diagnosis list | genetics list | symptoms list | medication list | ethnicity list | biochemical list | neg_findings list |
|---|---|---|---|---|---|---|---|---|---|---|
fabry:35127921 | Novel α-galactosidase A gene mutation in a Chinese Fabry disease family: A case report. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by a deficiency of the enzyme α-galactosidase A.",
"Herein, we analyzed a four-generation Chinese family. The proband is a 57-year-old woman who was diagnosed with left ventricular hypertrophy and atrial fibrillation 7 years ago. Echocardiogr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disease",
"FD",
"FD"
] | [
"rare X-linked",
"novel mutation"
] | [
"left ventricular hypertrophy",
"atrial fibrillation",
"end-diastolic diameter of the interventricular septum of 19.9 mm",
"left ventricular end-diastolic diameter of 63.1 mm",
"moderate-to-severe mitral regurgitation",
"enlarged left heart and right atrium",
"decreased left ventricular systolic and dia... | [
"prescribed agalsidase-β for enzyme replacement therapy"
] | [
"Chinese"
] | [
"low level of enzyme activity"
] | null |
fabry:35083291 | Fabry Nephropathy in a Young Female Patient Presenting with Only Urinary Mulberry Bodies Treated with Chaperone Therapy. | [
"Fabry disease (FD) is an X-linked disorder of the sphingolipid metabolism, caused by deficiency or decreased activity of α-galactosidase A. We report a rare case of Fabry nephropathy (FN) in a 21-year-old Japanese female patient presenting with only urinary mulberry bodies; she was treated with pharmacological cha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"disorder of the sphingolipid metabolism",
"Fabry nephropathy (FN)",
"FN",
"FN"
] | [
"X-linked",
"R301Q mutation"
] | [
"cardiac events",
"renal dysfunction"
] | [
"pharmacological chaperone therapy (PCT)",
"PCT",
"oral administration",
"PCT"
] | [
"Japanese"
] | [
"activity of α-galactosidase A was low"
] | [
"did not have renal dysfunction or proteinuria"
] |
fabry:34974891 | Complete Atrioventricular Block After Kidney Transplantation in a Patient With Fabry Disease Receiving Enzyme Replacement Therapy: A Case Report. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder that results from the deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) enzyme. Kidney transplantation is an option for treating end-stage renal disease in patients with FD. However, only a few cases of kidney transplantation hav... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"end-stage renal disease",
"FD",
"FD",
"end-stage renal disease",
"FD",
"end-stage renal disease",
"candidemia",
"FD"
] | [
"X-linked",
"mutation in the α-galactosidase A gene (p.Arg301Gln)"
] | [
"cardiomyopathy",
"markedly diffuse cardiac hypertrophy",
"post-transplantation course was uneventful",
"complete atrioventricular block",
"died",
"sepsis",
"cardiac morbidity",
"infection risks"
] | [
"Kidney transplantation",
"kidney transplantation",
"enzyme replacement therapy",
"peritoneal dialysis",
"enzyme replacement therapy with 1 mg/kg agalsidase-β every 2 weeks (Fabrazyme; Genzyme Co, Mass, USA)",
"successful deceased-donor kidney transplantation",
"transplantation",
"several months",
"... | null | [
"deficient activity of the lysosomal enzyme α-galactosidase A (α-Gal A) enzyme",
"reduced leukocyte α-Gal A enzyme activity"
] | null |
fabry:34960158 | Humoral Immune Response to SARS-CoV-2 Vaccination after a Booster Vaccine Dose in Two Kidney Transplant Recipients with Fabry Disease and Variable Secondary Immunosuppressive Regimens. | [
"The urgent need to fight the COVID-19 pandemic has accelerated the development of vaccines against SARS-CoV-2 and approval processes. Initial analysis of two-dose regimens with mRNA vaccines reported up to 95% efficacy against the original strain of the SARS-CoV-2 virus. Challenges arose with the appearance of new... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The urgent need to fight the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n COVID-19 pandemic\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"COVID-19 pandemic",
"strain of the SARS-CoV-2 virus",
"Fabry disease",
"lysosomal disorder",
"chronic end-stage renal disease",
"advanced Fabry disease",
"mild COVID-19 infection",
"Fabry disease"
] | [
"X-linked inherited"
] | [
"reduced vaccination success rates",
"renal graft"
] | [
"vaccines against SARS-CoV-2",
"two-dose regimens with mRNA vaccines",
"solid organ transplant recipients",
"two-dose mRNA vaccination regimen",
"booster",
"renal graft",
"adjunctive immunosuppressive therapies",
"three vaccine doses",
"barrier protection measures"
] | null | [
"variable humoral vaccination-related immune responses against SARS-CoV-2"
] | [
"did not seroconvert after three shots of an mRNA vaccine",
"weak response to COVID-19 vaccination"
] |
fabry:34959703 | Migalastat Treatment in a Kidney-Transplanted Patient with Fabry Disease and N215S Mutation: The First Case Report. | [
"Fabry disease is a rare X-linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α-galactosidase A activity and, consequently, to glycosphingolipid accumulation in a wide variety of cells. Fabry disease due to N215S (c.644A>G, p.Asn215Ser) missense mutation usually results in a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"end-stage renal disease",
"Fabry"
] | [
"rare X-linked",
"mutations in the GLA gene",
"N215S (c.644A>G, p.Asn215Ser) missense mutation",
"N215S mutation"
] | [
"isolated cardiac involvement",
"cardiac involvement",
"left ventricular hypertrophy",
"ventricular arrhythmias"
] | [
"kidney transplantation",
"kidney-transplanted",
"oral pharmacologic chaperone migalastat"
] | null | [
"deficient α-galactosidase A activity"
] | null |
fabry:34808632 | Autopsy Findings of Heterozygous Fabry Disease with the Severe Phenotype: A Case Report. | [
"Fabry disease (FD) is an inherited X-linked lysosomal storage disorder, with hemizygous males being more severely affected than heterozygous females. Herein, we report a rare case of FD in a heterozygous female with a severe phenotype. The patient had obesity and hyperlipidemia and had her first cerebral infarctio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"inherited X-linked",
"hemizygous males",
"heterozygous",
"heterozygous",
"presence of the classical phenotype"
] | [
"obesity",
"hyperlipidemia",
"cerebral infarction",
"morphological features of focal segmental glomerulosclerosis nephropathy",
"end-stage renal failure",
"died",
"cerebral hemorrhage",
"Mainz Severity Score Index",
"death",
"was 48/76",
"severe phenotype",
"vertebral arteries",
"cerebral he... | [
"Enzyme replacement therapy (ERT)",
"peritoneal dialysis",
"intensified treatment for metabolic factors",
"ERT"
] | null | [
"leukocyte alpha-galactosidase A activity was 2.3 Agal/U (normal: >20 Agal/U)"
] | null |
fabry:34790463 | Fabry Disease: A Atypical Presentation. | [
"Fabry Disease (FD) is a rare X-linked recessive disease caused by mutations in the GLA gene that lead to a decrease or lack of activity of the enzyme alpha galactosyl A. This lysosomal storage disorder results in progressive damage and dysfunction of several organs and, depending on the type of mutation and gender... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry Disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry Disease (FD)",
"lysosomal storage disorder",
"FD",
"multisystem disease",
"non-classical FD"
] | [
"rare X-linked recessive disease",
"mutations in the GLA gene",
"hereditary disease"
] | [
"progressive damage and dysfunction of several organs",
"previous neurological and psychiatric complaints",
"generalized tonic-clonic seizure"
] | [
"orotracheal intubation",
"for airway protection",
"transferred to an Intensive Care Unit (ICU)"
] | null | null | null |
fabry:34765393 | Renal involvement in a patient with the chronic visceral subtype of acid sphingomyelinase deficiency resembles Fabry disease. | [
"Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease (LSD) in which sphingomyelin accumulates due to deficient acid sphingomyelinase. In the chronic visceral subtype, organ manifestations are generally limited to the spleen, liver, and lungs. We report a male patient with the chronic visceral sub... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acid sphingomyelinase deficiency (ASMD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"lysosomal storage disease (LSD)",
"chronic visceral subtype",
"chronic visceral subtype",
"ASMD",
"Gaucher disease",
"Fabry disease"
] | null | [
"organ manifestations",
"limited to the spleen, liver, and lungs",
"renal insufficiency"
] | null | null | [
"Acid sphingomyelinase deficiency (ASMD)",
"deficient acid sphingomyelinase",
"proteinuria"
] | null |
fabry:34729455 | Pericardial effusion in the course of Fabry disease cardiomyopathy: a case report. | [
"Fabry disease (FD) is an X-chromosome-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal α-galactosidase A activity.",
"A 51-year-old Japanese woman with a previous diagnosis of FD presented with pericardial effusion. The exudative pericardial fluid contained globotria... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"disorder of glycosphingolipid metabolism",
"FD",
"FD cardiomyopathy"
] | [
"X-chromosome-linked inherited"
] | [
"pericardial effusion",
"Left ventricular hypertrophy"
] | null | [
"Japanese"
] | [
"deficient or absent lysosomal α-galactosidase A activity",
"increases in plasma levels of globotriaosylsphingosine and interleukin (IL)-18",
"the IL-6 level in the pericardial fluid was markedly higher than that in plasma",
"elevated IL-6 and IL-18 levels in pericardial fluid and plasma"
] | [
"despite regular administration of agalsidase alfa every 2 weeks over a 7-year period"
] |
fabry:34672003 | Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings. | [
"Angiokeratoma corporis diffusum (ACD) was long thought to be a specific dermal sign of Fabry disease (FD, X-linked alpha-galactosidase A [GLA] deficiency). However, other lysosomal storage diseases (LSDs) have also been identified as triggers of ACD. Generalized vasculopathy is an important pathogenetic factor in ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum (ACD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Fabry disease (FD",
"lysosomal storage diseases (LSDs)",
"ACD",
"FD",
"FD",
"ACD",
"FD-like ACD",
"unexplained ACD"
] | [
"X-linked alpha-galactosidase A [GLA] deficiency",
"particular pathogenic variants of the GLA gene and other genes"
] | [
"Angiokeratoma corporis diffusum (ACD)",
"Generalized vasculopathy",
"acroparesthesia (AP)",
"severe AP",
"endothelial abnormality",
"otherwise unexplained vasculopathy",
"severe AP"
] | null | null | null | [
"no lysosomal involvement",
"no evidence of FD",
"Whole-exome sequencing was negative for FD and other LSDs",
"not due to FD or another LSD"
] |
fabry:34545322 | Severe manifestations and treatment of COVID-19 in a transplanted patient with Fabry disease. | [
"Fabry disease is an X linked disease caused by pathogenic variants in the GLA gene. The cardiovascular and renal systems are most affected in Fabry patients and may require heart or kidney transplants in the late stages of the disease depending on severity of manifestations. Enzyme replacement therapy (ERT) has pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry",
"Fabry disease",
"COVID-19",
"Fabry disease",
"COVID-19",
"diabetes mellitus",
"Fabry disease",
"secondary invasive bronchopulmonary aspergillosis",
"interstitial nephritis potentially secondary to COVID-19",
"late stage Fabry disease",
"multiple COVID-19 related comp... | [
"X linked disease",
"pathogenic variants in the GLA gene"
] | [
"cardiovascular and renal systems",
"severe manifestations of COVID-19",
"severe manifestations of COVID-19",
"cavitary lesion formation",
"scattered subendocardial fibrosis",
"long-standing renal disease",
"respiratory failure"
] | [
"heart or kidney transplants",
"Enzyme replacement therapy (ERT)",
"received cardiac or renal transplants",
"currently on dialysis",
"history of cardiac or renal transplants",
"history of kidney transplant",
"agalsidase beta ERT, then oral migalastat"
] | null | [
"rapid increase in cytokine levels",
"prothrombotic state",
"naturally elevated cytokine levels"
] | [
"despite the advanced management for the COVID-19 infection"
] |
fabry:34529243 | Fabry disease associated with multiple myeloma: a case report. | [
"Fabry disease (FD) is an X-linked genetic lysosomal disorder caused by alpha-galactosidase A (GLA) deficiency. Multiple myeloma (MM) predominately affects older adults, which ranks as the second commonest hematological malignancy. Their overlap has rarely been reported. We present a case of the coexistence of FD a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal disorder",
"Multiple myeloma (MM)",
"hematological malignancy",
"coexistence of FD and MM",
"MM",
"myeloma cast nephropathy",
"FD",
"FD",
"FD",
"MM",
"FD"
] | [
"X-linked genetic",
"germ line mutation in GLA"
] | [
"thoracic spine tumor with bone destruction",
"acute kidney injury",
"significantly improved the renal function",
"potential pathogenic relationship between FD and MM",
"multiple organ abnormalities"
] | [
"bortezomib and dexamethasone therapy"
] | null | [
"alpha-galactosidase A (GLA) deficiency"
] | null |
fabry:34521087 | A Case of a 49-Year-Old Man with Nonclassical Fabry Disease Diagnosed by Renal Biopsy. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficiency of α-GLA activity, leading to major organ failure and premature mortality. According to different disease courses, FD can be divided into classical and nonclassical pheno... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"nonclassical FD",
"FD",
"FD",
"nonclassical FD type"
] | [
"rare X-linked",
"mutations in the galactosidase A (GLA) gene",
"p.R301Q (c.902G>A [p.Arg301Gln])"
] | [
"major organ failure",
"premature mortality",
"complete right bundle branch block",
"abnormal Q waves in high lateral",
"dramatically elevated ST segment",
"stabilization of kidney disease",
"cardiac and renal symptoms"
] | [
"Angiotensin receptor blocker",
"traditional Chinese medicine"
] | null | [
"deficiency of α-GLA activity",
"proteinuria",
"decreased glomerular filtration rate"
] | [
"absent of characteristic symptoms",
"but not enzyme replacement therapy"
] |
fabry:34490767 | [Solitary angiokeratoma of the tongue]. | [
"A 41-year-old woman, who was referred with a reddish purple like lesion on the left side of the tongue, appeared to have an angiokeratoma after histopathological examination. Because of the benign character of this lesion and the absence of any complaints, no adjuvant treatment after excisional biopsy was indicate... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"angiokeratoma",
"systemic disease",
"Fabry disease",
"Fabry disease"
] | null | [
"reddish purple like lesion on the left side of the tongue",
"Angiokeratomas",
"solitary oral lesions",
"widespread skin involvement of angiokeratomas",
"oral lesions",
"Esthetically unpleasing or painful angiokeratomas"
] | [
"locally excised",
"laser- or cryotherapy"
] | null | null | [
"absence of any complaints",
"no adjuvant treatment after excisional biopsy"
] |
fabry:34479887 | Rare presentation of Fabry disease as 'burnt-out' hypertrophic cardiomyopathy. | [
"We herein report the case of a 53-year-old man who was historically diagnosed with hypertrophic cardiomyopathy (HCM) and was lost to follow-up, before presenting with end-stage heart failure. This was initially suspected as dilated cardiomyopathy and then 'burnt-out phase' of HCM but subsequently the underlying di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We herein report the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"hypertrophic cardiomyopathy (HCM)",
"dilated cardiomyopathy",
"'burnt-out phase' of HCM",
"Fabry disease",
"Fabry disease",
"lysosomal-storage disease",
"Fabry disease",
"HCM",
"Untreated Fabry",
"burnt out' phase"
] | null | [
"end-stage heart failure",
"Cardiac involvement",
"left ventricular hypertrophy",
"end-stage heart failure",
"initial hypertrophy undergoes eccentric remodelling to a dilated, severely impaired left ventricle"
] | [
"Early treatment of",
"enzyme replacement therapy"
] | null | [
"reduced or absent activity of the alpha-galactosidase A enzyme"
] | [
"lost to follow-up"
] |
fabry:34466776 | Corrigendum to: Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report. | [
"[This corrects the article DOI: 10.1093/ehjcr/ytab124.][This corrects the article DOI: 10.1093/ehjcr/ytab124.]."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">[This corrects the article DOI: 10.1093/ehjcr/ytab124.][This corrects the article DOI: 10.1093/ehjcr/ytab124.].</div>"
] | null | null | null | null | null | null | null |
fabry:34432960 | Application of Genetic Testing in Unveiling the Diagnosis of Fabry Disease in a Patient with Hypertrophic Cardiomyopathy. | [
"Fabry disease (FD) is a lysosomal storage disorder with an X-linked genetic pattern. It is caused by the genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome, resulting in the deficiency of the alpha-galactosidase A enzyme activity. This leads to an accumulation of globotriaosylcer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"X-linked genetic pattern",
"genetic mutations in the galactosidase alpha gene on the long arm of the X-chromosome"
] | [
"Left ventricular hypertrophy",
"involving the heart",
"cardiac disease progression",
"reversal or halting of the disease's progression",
"left ventricular hypertrophy"
] | [
"early initiation of enzyme replacement therapy"
] | null | [
"deficiency of the alpha-galactosidase A enzyme activity"
] | null |
fabry:34365103 | Generation of an induced pluripotent stem cell line (ZJUi007-A) from a 11-year-old patient of Fabry disease. | [
"PBMCs were collected from a patient with a novel GLA gene mutation (c.140G > A) which contributed to Fabry disease. Subsequently, an induced pluripotent stem cell (iPSC) line was derived using an episomal reprogramming method that transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">PBMCs were collected from a patient with a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n novel GLA gene mutation (c.140G > A)\n <span style=\"font-si... | [
"Fabry disease"
] | [
"novel GLA gene mutation (c.140G > A)",
"expected mutation in the iPSC line"
] | null | [
"episomal reprogramming method",
"transfer the reprogramming plasmids expressing OCT3/4, SOX2, KLF4, LIN28 and L-MYC"
] | null | null | null |
fabry:34354036 | First 2 Fabry Cases with Novel Mutation and Their Associated Clusters in Malaysia. | [
"BACKGROUND No cases of Fabry disease (FD) have been reported thus far in Malaysia. We aimed to report the demographic characteristics, clinical manifestations, molecular results, and treatment outcomes of 2 FD cases. This study was a retrospective review of 2 family clusters of FD on follow-up in Sarawak, Malaysia... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND No cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Fabry disease (FD)",
"FD",
"FD",
"FD",
"end-stage renal disease",
"FD"
] | [
"variant within exon 4 of the GLA gene: c.610 T>C (p.Trp204Arg)"
] | [
"cornea verticillata",
"nonspecific headache with 1 episode of seizure"
] | [
"Agalsidase beta (Fabrazyme®) enzyme replacement therapy",
"regular dialysis"
] | [
"Malaysia",
"Sarawak",
"Malaysia"
] | [
"nephrotic-range proteinuria",
"proteinuria and renal function remained stable",
"residual activity of alpha-galactosidase A"
] | [
"absence of neutralizing antibody after 24 months",
"No hypersensitivity or adverse reactions were reported",
"were asymptomatic",
"normal globotriaosylsphingosine level",
"refused further investigations",
"were asymptomatic"
] |
fabry:34263113 | Rapidly progressive aortic stenosis treated with transcatheter aortic valve implantation in a patient with Fabry disease: a case report. | [
"Fabry disease (FD) is a rare lysosomal storage disease, caused by mutations in the gene encoding the enzyme α-galactosidase A (α-Gal A). Cardiac involvement is one of the main causes of death and it is characterized by progressive concentric left ventricular hypertrophy (LVH), which in most cases is symmetric. Mil... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare lysosomal storage disease",
"FD",
"cardiac variant of FD",
"Fabry cardiomyopathy",
"FD"
] | [
"mutations in the gene encoding the enzyme α-galactosidase A (α-Gal A)"
] | [
"Cardiac involvement",
"death",
"progressive concentric left ventricular hypertrophy (LVH)",
"Mild thickening of the left-sided valves",
"Severe aortic stenosis",
"severe LVH",
"dyspnoea in New York Heart Association functional class II-III",
"severe aortic stenosis (aortic valve area: 0.97 cm2)",
"... | [
"enzyme replacement therapy",
"with an intravenous infusion of 0.2 mg/kg of agalsidase alpha every 14 days",
"successful transfemoral transcatheter aortic valve implantation (TAVI)",
"TAVI",
"TAVI"
] | null | null | [
"asymptomatic",
"asymptomatic"
] |
fabry:34222454 | Anderson-Fabry disease presenting with atrial fibrillation as earlier sign in a young patient: A case report. | [
"Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A enzyme activity in which glycosphingolipids gradually accumulate in multi-organ systems. Cardiac manifestations are the leading cause of mortality in patients with AFD. Among them, arrhythmias... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"lysosomal storage disorder",
"AFD",
"heart disease",
"AFD",
"conduction disorders",
"AFD",
"AFD",
"classical AFD",
"AFD",
"atrial fibrillation",
"hypertrophic myocardium"
] | [
"X-linked",
"gene mutation"
] | [
"Cardiac manifestations",
"arrhythmias",
"atrial fibrillation",
"chest discomfort",
"Left ventricular hypertrophy",
"atrial fibrillation on the 12 Leads-electrocardiography (ECG)",
"spontaneously restored to normal sinus rhythm",
"relationships between P and R waves, including a shorter PR interval on... | null | null | [
"deficiency of α-galactosidase A enzyme activity"
] | null |
fabry:34136790 | Lupus Nephritis and Hydroxychloroquine-Associated Zebra Bodies: Not Just in Fabry Disease. | [
"Zebra bodies in kidney biopsy specimens are widely accepted as a specific feature of Fabry disease but they can also be present in a drug-induced mimic of Fabry disease, phospholipidosis. Chloroquine and hydroxychloroquine may both induce zebra body formation and kidney phospholipidosis. However, the frequency and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Zebra bodies in kidney biopsy specimens\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Fabry disease",
"drug-induced mimic of Fabry disease",
"phospholipidosis",
"lupus nephritis",
"lupus nephritis",
"lupus nephritis",
"hydroxychloroquine"
] | null | [
"were much smaller than those observed in Fabry disease",
"complete remission",
"kidney toxicity of drug-induced phospholipidosis"
] | [
"Chloroquine",
"hydroxychloroquine",
"hydroxychloroquine administration",
"hydroxychloroquine",
"continuous use of hydroxychloroquine"
] | null | null | [
"absence of chloroquine or hydroxychloroquine administration",
"masked by immunosuppression",
"subclinical influence on kidney function"
] |
fabry:34084467 | Myeloid bodies caused by COQ2 mutation: a case of concurrent COQ2 nephropathy and IgA nephropathy. | [
"Immunoglobulin A (IgA) nephropathy, in the presence of myeloid bodies, has been reported in Fabry disease (FD). In this case, we excluded the diagnosis of FD by demonstrating the absence of mutation in the α-galactosidase A（GLA）gene. Our patient also denied any history of use of cationic amphiphilic drugs. Interes... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Immunoglobulin A (IgA) nephropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Immunoglobulin A (IgA) nephropathy",
"Fabry disease (FD)",
"COQ2 nephropathy",
"IgA nephropathy",
"COQ2 nephropathy"
] | [
"novel missense mutation for Coenzyme Q2（COQ2） , which is",
"COQ2 mutation-associated nephropathy"
] | [
"good treatment response"
] | [
"coenzyme Q10 supplementation"
] | null | null | [
"excluded the diagnosis of FD",
"absence of mutation in the α-galactosidase A（GLA）gene",
"denied any history of use of cationic amphiphilic drugs"
] |
fabry:34076843 | LMX1B-associated nephropathy that showed myelin figures on electron microscopy. | [
"The mutation of LIM homeodomain transcription factor LMX1B gene leads to nail-patella syndrome (NPS), which is characterized by dysplastic nails, hypoplastic patellae, iliac horns and nephropathy. The characteristic renal histological finding of NPS nephropathy is irregular thickening of the glomerular basement me... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutation of LIM homeodomain transcription factor LMX1B gene\n <span style=\"font-size: 0.8em; font-wei... | [
"nail-patella syndrome (NPS)",
"nephropathy",
"NPS nephropathy",
"Fabry disease",
"lysosomal storage disorder",
"LMX1B-associated nephropathy (LAN)",
"focal segmental glomerulosclerosis (FSGS)",
"FSGS",
"LAN",
"LAN"
] | [
"mutation of LIM homeodomain transcription factor LMX1B gene",
"NM_002316:3c.746G > A:p.(Arg249Gln) LMX1B variant was identified in his older brother"
] | [
"dysplastic nails",
"hypoplastic patellae",
"iliac horns",
"renal damage"
] | null | [
"Japanese-Brazilian"
] | [
"deficiency of α-galactosidase A activity",
"proteinuria",
"decreased renal function"
] | [
"without findings of glomerular basement membrane abnormality suggestive for NPS",
"Fabry disease",
"normal α-galactosidase A activity",
"this initial diagnosis was denied"
] |
fabry:33986771 | Case Report: First Two Identified Cases of Fabry Disease in Central Asia. | [
"Background: Fabry disease (FD, OMIM #301500) is a rare, progressive, X-linked inherited, genetic disease due to the functional deficiency of lysosomal α-galactosidase (α-GAL) that leads to the accumulation of glycosphingolipids (mainly globotriaosylceramide or Gb3) and its derivative globotriaosylsphingosine or ly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Background: \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Fabry disease (FD",
"301500)",
"rare, progressive",
"FD",
"multisystem disorder",
"Fabry disease",
"rare genetic diseases",
"FD"
] | [
"X-linked inherited",
"genetic disease",
"X-linked inheritance"
] | [
"neuropathic pain",
"dermatological, gastrointestinal, ocular, and cochleo-vestibular manifestations",
"end-organ damage",
"renal failure",
"cardiac arrhythmia",
"early stroke",
"reduced life expectancy",
"non-specificity of its early and later-onset symptoms"
] | null | [
"Kazakh",
"Central Asia"
] | [
"functional deficiency of lysosomal α-galactosidase (α-GAL)"
] | [
"absence of specific treatment",
"non-specific symptoms"
] |
fabry:33910349 | Fabry disease with cardiovascular manifestation in a patient with end-stage renal disease. | [
"Fabry disease is a rare X-linked hereditary storage disease caused by a mutation of the gene encoding alpha-galactosidase A. The clinical manifestation of the classical disease form is variable depending on the degree of individual organs involvement, including especially kidney, myocardium, central nervous system... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"storage disease"
] | [
"rare X-linked hereditary"
] | [
"kidney, myocardium, central nervous system (CNS)",
"cardiac involvement",
"terminal renal failure"
] | [
"already 9 years dependent on dialysis"
] | null | null | null |
fabry:33907643 | Fabry Disease p.M290I Mutation is Related to Organ Involvement: A Case Report. | [
"Fabry disease (FD) is an X-linked hereditary disease. It results from mutations in the GLA gene, leading to deficient activity of the enzyme alpha-galactosidase A (α-Gal A) and progressive accumulation of undegraded glycosphingolipids in cell lysosomes. Enzyme replacement therapy (ERT) can improve the natural cour... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"chronic proteinuric kidney disease",
"FD",
"FD"
] | [
"X-linked hereditary disease",
"mutations in the GLA gene",
"heterozygous mutation c.870G>C (p.Met290Ile; M290I) in exon six of the GLA gene",
"p.M290I",
"GLA mutation",
"p.M290I mutation-associated disease activity"
] | [
"worsening left ventricle mass index (LVMi)",
"new ischemic cerebral lesion"
] | [
"Enzyme replacement therapy (ERT)",
"renal replacement therapy (RRT) with peritoneal dialysis (PD)",
"ERT"
] | null | [
"deficient activity of the enzyme alpha-galactosidase A (α-Gal A)",
"substantial increase in serum globotriaosylsphingosine (LysoGb3) levels"
] | [
"Despite receiving optimal medical treatment",
"proband did not meet the criteria for a definitive FD diagnosis"
] |
fabry:33738419 | Progression of electrocardiogram changes in an untreated fabry disease: a case report. | [
"Fabry disease (FD) is a rare lysosomal storage disorder with multiorgan manifestation and associated with an increased morbidity and mortality. Fabry cardiomyopathy includes left ventricular 'hypertrophy' (LVH), cardiac arrhythmias, and heart failure. We report a case of an untreated FD with characteristic finding... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare lysosomal storage disorder",
"Fabry cardiomyopathy",
"untreated FD",
"FD",
"FD",
"FD",
"FD",
"FD"
] | null | [
"multiorgan manifestation",
"left ventricular 'hypertrophy' (LVH)",
"cardiac arrhythmias",
"heart failure",
"characteristic findings in electrocardiogram (ECG)",
"symptomatic ventricular extrasystoles",
"LVH",
"reduced global longitudinal strain",
"ventricular arrhythmias",
"short PQ minus P-wave ... | [
"enzyme replacement therapy"
] | null | [
"proteinuria"
] | [
"Without any further examinations",
"without additional organ manifestations"
] |
fabry:33732617 | New mutation in Fabry disease: c.448delG, first phenotypic description. | [
"Fabry disease (FD) (Anderson-Fabry disease, OMIM 301500) is a genetic disorder caused by a pathogenic variant in the GLA gene on chromosome Xq22 that produces a deficiency in the lysosomal enzyme alpha-galactosidase A. It is transmitted as an X-linked trait, although de novo mutations have been described. The obje... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"Anderson-Fabry disease",
"FD",
"FD"
] | [
"OMIM 301500",
"genetic disorder",
"pathogenic variant in the GLA gene on chromosome Xq22",
"transmitted as an X-linked trait",
"de novo mutations",
"deletion of a guanine at position 448, in exon 3 of the GLA gene (c.448delG)",
"de novo mutation"
] | [
"positional vertigo",
"acroparesthesia",
"anhidrosis",
"heat intolerance",
"episodes of abdominal pain",
"postprandial discomfort",
"horizonto-rotatory nystagmus in both looks",
"presence of umbilical and thighs angiokeratomas"
] | [
"Genetic counseling"
] | null | [
"Determination of Alpha-Galactosidase in blood was requested: 0.34 μmol/l/h (2.10-10.51 μmol/l/h)"
] | [
"rest of the neurological evaluation did not present abnormalities",
"without finding relatives with this variant of the GLA gene or a family history of FD"
] |
fabry:33649041 | Novel GLA T194A variant causes Fabry disease. | [
"Fabry disease (FD) is an X-linked, systemic lysosomal deposition disease caused by alpha-galactosidase A (AGAL) enzyme deficiency deriving out of changes on the GLA gene. Though several mutations have been described, one must consider that even a specific mutation may present with variable clinical expression with... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"systemic lysosomal deposition disease",
"end-stage kidney disease (ESKD)"
] | [
"X-linked",
"changes on the GLA gene",
"hemizygous men",
"novel FD mutation",
"GLA T194A variant",
"previously not described mutation in exon 4 of the GLA gene, as for the substitution of threonine for alanine"
] | [
"classic phenotype of FD"
] | null | null | [
"alpha-galactosidase A (AGAL) enzyme deficiency"
] | [
"no residual AGAL activity"
] |
fabry:33644734 | Left Ventricular Assist Device Support for Fabry Cardiomyopathy: A Case Series. | [
"Patients with restrictive cardiomyopathy due to Fabry disease are often deemed ineligible for left ventricular assist device (LVAD) support due to the risk of suction events with a small LV cavity. We describe the first case series of LVAD support for Fabry disease. LVAD therapy can improve survival, quality of li... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n restrictive cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"restrictive cardiomyopathy",
"Fabry disease",
"Fabry disease"
] | null | [
"suction events with a small LV cavity",
"improve survival",
"quality of life",
"clinical stability",
"Fabry crises"
] | [
"left ventricular assist device (LVAD) support",
"LVAD support",
"LVAD therapy",
"start enzyme replacement therapy",
"surgery",
"rapid treatment of fever",
"involvement of a multidisciplinary team",
"early initiation of rehabilitation",
"LVAD support for both bridging and destination therapy"
] | null | null | [
"ineligible"
] |
fabry:33598617 | Diverse phenotypic expression associated with the same genetic variant in female heterozygote patients of Anderson-Fabry disease: a case series. | [
"Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder resulting from a mutation of alpha-galactosidase A gene (GLA), causing deficiency in alpha-galactosidase activity. The enzyme deficit can lead to storage of globotriaosylceramide in various organs including heart. Studies suggest that vasospast... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"lysosomal storage disorder",
"AFD",
"AFD",
"AFD",
"AFD",
"AFD",
"AFD"
] | [
"X-linked",
"mutation of alpha-galactosidase A gene (GLA)",
"p. Arg342Glu missense variant in alpha-galactosidase A gene (GLA)",
"genetic variant",
"heterozygote"
] | [
"vasospastic angina (VSA)",
"progressive cardiac involvement",
"VSA",
"ventricular fibrillation",
"cardiac hypertrophy",
"vasospasms was induced by spasm provocation test",
"cardiac hypertrophy",
"vasospasms",
"cardiac hypertrophy"
] | [
"enalapril therapy",
"enzyme replacement therapy (ERT)"
] | null | [
"deficiency in alpha-galactosidase activity",
"enzyme deficit"
] | [
"no organic coronary artery stenosis",
"no signs of cardiac hypertrophy",
"were found",
"coronary arteries had no organic stenosis",
"negative spasm provocation test"
] |
fabry:33569526 | Radiofrequency ablation of ventricular tachycardia in Anderson-Fabry disease: a case series. | [
"Cardiac involvement in Anderson-Fabry disease (AFD) can lead to arrhythmia, including ventricular tachycardia (VT). The literature on radiofrequency ablation (RFA) for the treatment of VT in AFD disease is limited.",
"We discuss RFA of drug-refractory VT electrical storm in three males with AFD. The first patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Anderson-Fabry disease (AFD)",
"VT",
"AFD disease",
"AFD",
"AFD",
"AFD",
"end-stage disease"
] | null | [
"Cardiac involvement",
"arrhythmia",
"ventricular tachycardia (VT)",
"drug-refractory VT electrical storm",
"extensive involvement of the inferolateral left ventricle (LV)",
"left ventricular ejection fraction (LVEF) of 35%",
"VT",
"acute arrhythmia burden was controlled",
"died",
"full-thickness ... | [
"radiofrequency ablation (RFA)",
"RFA",
"VT ablation procedures",
"the inferobasal endocardial LV was ablated",
"ablation, where epicardial and endocardial sites were ablated",
"RFA of several endocardial left ventricular sites",
"RFA of endocardial left ventricular apical disease",
"RFA"
] | null | null | [
"despite appropriate implantable cardioverter-defibrillator therapies for VT",
"drug-refractory VT"
] |
fabry:33456443 | Riga-Fede disease associated with Fabry's disease and Niemann-Pick C disease in a boy with microcephaly: A case report. | [
"A 16-month-old Saudi boy has microcephaly and three rare genetic diseases [Riga Fede disease (RFD), Niemann-Pick C disease, and Fabry disease. In the published literature, there is no reported case with these four associations, especially RFD affection of the dorsal surface of the tongue. It is also a clear demons... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 16-month-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Riga Fede disease (RFD)",
"Niemann-Pick C disease",
"Fabry disease",
"RFD affection of the dorsal surface of the tongue"
] | [
"rare genetic diseases"
] | [
"microcephaly",
"difficult RDF ulcer"
] | [
"conservative treatment",
"smoothing sharp edges and removing mamelons of the lower primary incisors using a diamond bur in a high-speed dental handpiece"
] | [
"Saudi"
] | null | null |
fabry:33413001 | "Protenuria in SLE: Is it always lupus?" | [
"Proteinuria is one of the most typical manifestations of kidney involvement in Systemic Lupus Erythematosus (SLE). We report the case of a 23-year-old woman with a 6-year-long history of SLE presenting with proteinuria after a three-year remission on hydroxychloroquine. Kidney histological examination showed alter... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Proteinuria\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Systemic Lupus Erythematosus (SLE)",
"SLE",
"hydroxychloroquine toxicity",
"Fabry disease"
] | null | [
"kidney involvement"
] | [
"three-year remission on hydroxychloroquine"
] | null | [
"Proteinuria",
"proteinuria"
] | null |
fabry:33381118 | Case Report: A Spinal Ischemic Lesion in a 24-Year-Old Patient With Fabry Disease. | [
"While cerebral lesions are common in Fabry disease (FD), spinal lesions have not been described, and their presence was suggested to be indicative of multiple sclerosis. Here, we present a FD patient with histopathological confirmed spinal ischemic stroke.",
"A patient with genetically and biochemically diagnose... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">While \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cerebral lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Fabry disease (FD)",
"multiple sclerosis",
"FD",
"FD",
"FD",
"FD"
] | null | [
"cerebral lesions",
"spinal lesions",
"spinal ischemic stroke",
"acroparesthesia",
"angiokeratomas",
"hypohidrosis",
"myocardial hypertrophy",
"paraplegia",
"loss of all sensory modalities below Th9",
"loss of bowel and bladder function",
"T2 hyperintense, non-contrast-enhancing lesion of the th... | [
"intravenous and intrathecal methylprednisolone, plasmapheresis, intravenous immunoglobulins",
"cyclophosphamide"
] | null | [
"microalbuminuria",
"mild pleocytosis",
"increased total protein and lactate levels",
"decreased glucose ratio"
] | [
"cranial MRI was inconspicuous",
"negative oligoclonal bands",
"Rheumatic, neoplastic, and infectious disorders were excluded",
"without clinical improvement",
"prematurely discarded"
] |
fabry:33250492 | When Frequent (Pandemic) Occurs in a Non-Frequent Disease: COVID-19 and Fabry Disease: Report of Two Cases. | [
"Fabry disease (FD), like COVID-19, can affect multiple organs, including the lungs. Patients with FD are expected to develop severe COVID-19, due to involvement of not only the lungs but also the kidneys and the presence of other comorbidities. We present 2 cases of mild COVID-19 in patients with FD who were infec... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"COVID-19",
"FD",
"severe COVID-19",
"mild COVID-19",
"FD",
"COVID-19 virus",
"FD",
"severe COVID-19",
"COVID-19 infection",
"FD",
"severe COVID-19"
] | [
"X chromosome mutation"
] | [
"affect multiple organs, including the lungs",
"involvement of not only the lungs but also the kidneys"
] | null | null | null | null |
fabry:33156427 | Fabry disease: GLA deletion alters a canonical splice site in a family with neuropsychiatric manifestations. | [
"Fabry disease (FD) is a rare X-linked glycosphingolipidosis caused by mutations in GLA, a gene responsible for encoding α-galactosidase A, an enzyme required for degradation of glycosphingolipids, mainly globotriaosylceramide (Gb3) in all cells of the body. FD patients present a broad spectrum of clinical phenotyp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"glycosphingolipidosis",
"FD",
"depression",
"schizophrenia",
"depression",
"FD"
] | [
"rare X-linked",
"mutations in GLA, a gene",
"novel GLA variant located in the 5' splice site of the intron 3,",
"variant promotes alteration of the wild type donor site, affecting splicing and producing two aberrant transcripts"
] | [
"symptoms are shared with other diseases",
"mild signs of FD",
"angiokeratoma",
"cornea verticillata",
"acroparesthesia",
"tinnitus",
"vertigo",
"psychiatric symptoms",
"psychiatric illnesses",
"hippocampus is an affected brain structure",
"neuronal alterations",
"psychiatric symptoms"
] | null | null | [
"α-galactosidase A",
"absence of enzymatic activity in cells expressing both transcripts",
"accumulation of plasma lyso-Gb3 and urinary Gb3"
] | null |
fabry:33119553 | Different Phenotypes of Anderson-Fabry Disease Identified with Cardiac Magnetic Resonance Imaging in a Family with the Same Late-Onset Mutation. | [
"BACKGROUND Cardiac magnetic resonance imaging (CMR) is the only noninvasive test capable of differentiating between hypertrophic cardiomyopathy (HCM) and late-onset Anderson-Fabry disease (AFD). The purpose of this report is to show how CMR led to diagnosis of AFD in 3 family members, 1 of whom previously was misd... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">BACKGROUND \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiac magnetic resonance imaging (CMR)\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"hypertrophic cardiomyopathy (HCM)",
"late-onset Anderson-Fabry disease (AFD)",
"AFD",
"late-onset AFD",
"cardiomyopathy",
"AFD cardiomyopathy",
"late-onset AFD",
"late-onset AFD",
"late-onset AFD",
"AFD",
"HCM",
"AFD"
] | [
"presence of the GLA p.F113.L mutation)"
] | [
"cardiac phenotypes",
"left ventricular hypertrophy (LVH)",
"ECG and echocardiographic findings",
"HCM",
"severe symmetrical LVH",
"asymmetrical septal LVH",
"LVH and fibrosis patterns"
] | null | null | null | [
"misdiagnosed with HCM"
] |
fabry:33096490 | Fabry Disease in Young Ischemic Stroke Patients in Northern Israel. | [
"The prevalence of Fabry Disease (FD) with cerebrovascular complications varies in different populations. The aim of this study was to estimate the presence of FD among young stroke patients in northern Israel.",
"We performed a retro-/prospective search for FD in young patients (aged ≤50 years old) admitted to t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The prevalence of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry Disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Fabry Disease (FD)",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD",
"stroke",
"cryptogenic"
] | null | [
"cerebrovascular complications",
"stroke",
"acute ischemic stroke of any etiology"
] | null | [
"northern Israel"
] | null | [
"None",
"cryptogenic stroke"
] |
fabry:33040545 | A late-onset male Fabry disease patient with somatic mosaicism of a classical GLA mutation: a case report. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the α-galactosidase A gene (GLA). Male patients of FD develop early sign and symptoms in childhood or adolescence. However, \"de novo somatic mosaicism\" is rare and might be developed a relatively mild phenotype despite carrying a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD"
] | [
"X-linked",
"mutations in the α-galactosidase A gene (GLA)",
"de novo somatic mosaicism",
"mutation results in a substitution of the amino acid in position 274 from glycine to arginine",
"de novo mutation with somatic mosaicism",
"58% of the readings had the mutated allele in buccal cells, 84% in blood, a... | [
"early sign and symptoms"
] | [
"on treatment for enzyme replacement therapy (agalsidase-β, 1.0 mg/kg biweekly) for past 9 years"
] | null | [
"Leukocyte α-galactosidase activity was markedly reduced at 5.3 nmol/hr/mg (normal range, 25-126)",
"mild albuminuria (123 mg/g Cr)"
] | [
"no family members showed FD-related symptoms",
"DNA sequence analysis for FD showed no mutations",
"maintained normal renal function (serum creatinine 1.0 mg/dL)"
] |
fabry:33014486 | Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family. | [
"Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal failure. He was found to have zebra bodies in visceral epithelial cells on biop... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage genetic disorder",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"1000 mutations in the alpha-galactosidase-A gene region",
"missense variant in the GLA gene with alanine replaced by cysteine at position 682 (c.682 A > C, p.N228H)",
"c.682 A > C variant"
] | [
"progressive renal failure"
] | null | null | [
"alpha-galactosidase level was found to be 21 nm/hr/mg (normal range 50-150 nm/hr/mg)",
"low alpha-galactosidase level"
] | null |
fabry:32991443 | Fabry disease with early-onset ventricular dilation: A case report. | [
"The most common cardiac involvement of Fabry disease (FD) is left ventricular hypertrophy (LVH), which usually occurs in male patients over the age of 30. In rare cases, it can progress to ventricular dilation in the late stage of the disease.",
"A 16-year-old boy presenting with recurrent extremity pain and che... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The most common \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Fabry disease (FD)",
"FD",
"FD",
"FD"
] | null | [
"cardiac involvement",
"left ventricular hypertrophy (LVH)",
"ventricular dilation",
"recurrent extremity pain",
"chest distress",
"ventricular dilation",
"slow and gradual decrease in the frequency and degree of pain and chest distress",
"Cardiac involvement",
"unexplained ventricular dilation",
... | [
"treated using metoprolol (23.75 mg qd) and angiotensin-converting enzyme inhibitor (fosinopril sodium 5 mg qd)"
] | null | null | [
"refused enzyme replacement therapy for financial reasons",
"no significant changes"
] |
fabry:32924720 | Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder caused by the mutation of the GLA gene, encoding the α-galactosidase, which is responsible for the catabolism of neutral glycosphingolipids. Microalbuminuria or low-grade proteinuria, and continuously progressive renal failure are common manifestations i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"nephrotic syndrome",
"FD",
"nephrotic syndrome",
"FD companying with minimal change disease",
"FD",
"FD",
"additional renal disease",
"FD",
"nephrotic syndrome"
] | [
"X-linked",
"mutation of the GLA gene, encoding the α-galactosidase",
"nonsense GLA gene variant (c.707G > A, p.Trp236*)"
] | [
"continuously progressive renal failure",
"sudden onset",
"sudden onset of generalized edema",
"scattered angiokeratoma can be found on the low back skin",
"similar locating pattern of angiokeratoma",
"Sudden onset of nephrotic syndrome"
] | [
"Immunotherapy alone (steroids and tacrolimus)",
"Immunosuppressive treatment"
] | [
"Chinese"
] | [
"Microalbuminuria",
"low-grade proteinuria",
"improved the massive proteinuria",
"24-h urine protein is stable at about 0.5 g"
] | [
"denied hypohidrosis",
"nocturia",
"any history of episodic hand or foot pain",
"no evident abnormality was found in the laboratory work up and physical examination of his younger brother",
"without enzyme replacement therapy",
"renal function keeps normal"
] |
fabry:32902816 | A classic variant of Fabry disease in a family with the M296I late-onset variant. | [
"Fabry disease is an X-linked recessive disease of glycosphingolipid metabolism caused by deficiency or reduced activity of α-galactosidase A. Fabry disease phenotypes are known to consist of a classic variant and a late-onset variant. In patients with Fabry disease, the phenotype is generally considered to be defi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"late-onset variant",
"Fabry disease",
"classic variant of Fabry disease",
"classic Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive disease of glycosphingolipid metabolism",
"mutations that are expected to produce the late-onset variant",
"late-onset variant mutations"
] | [
"typical disease symptoms",
"hypohidrosis",
"associated heat accumulation",
"cried at night",
"severe acroparaesthesia",
"symptoms were similar to those of classic Fabry disease",
"alleviated his symptoms",
"rapid improvement of the patient's subjective symptoms",
"childhood symptoms"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy"
] | null | null | null |
fabry:32840752 | Downregulation of megalin, cubilin, ClC-5 and podocin in Fabry nephropathy: potential implications in the decreased effectiveness of enzyme replacement therapy. | [
"Fabry disease is an X-linked disorder due to mutations in α-galactosidase A, resulting in the accumulation of enzyme substrates and cell malfunction. Kidney involvement is frequent, affecting all native kidney cell types. Podocyte damage results in proteinuria and chronic kidney disease. End-stage kidney disease i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"chronic kidney disease",
"End-stage kidney disease",
"chronic kidney disease (CKD) biopsies",
"Fabry nephropathy"
] | [
"X-linked disorder",
"mutations in α-galactosidase A",
"megalin"
] | [
"Kidney involvement"
] | [
"enzyme replacement therapy (ERT) cellular absorption",
"ERT"
] | null | [
"proteinuria",
"podocyte damage",
"podocin concentration is decreased",
"progressive proteinuria",
"decreased expression of megalin, cubilin, ClC-5 and podocin",
"decrease in ClC-5, a molecule engaged in endosomal-lysosomal acidification"
] | null |
fabry:32813676 | Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population. | [
"Objectives Fabry disease (FD, OMIM #301500) is a rare and progressive X-linked lysosomal storage disorder. FD is caused by mutations in the GLA gene on chromosome Xq22. Methods In this article, we aimed to present the largest sample of GLA mutation spectrum including common and novel variants in Turkish population... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Objectives \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Fabry disease (FD",
"301500)",
"lysosomal storage disorder",
"FD",
"FD"
] | [
"rare and progressive X-linked",
"mutations in the GLA gene on chromosome Xq22",
"22 different mutations as two novel [(p.F69S(c.206T>C), p.P205A (c.613C>G)]",
"GLA mutations",
"14 missense mutations",
"four nonsense mutations",
"two small deletions, one small deletion/insertion and one small insertion"... | [
"cornea verticillata",
"acroparesthesia",
"angiokeratoma",
"psychiatric",
"gastrointestinal symptoms",
"gastrointestinal symptoms"
] | null | [
"Turkish",
"Turkish"
] | null | null |
fabry:32797665 | Recurrent fever of unknown origin: An overlooked symptom of Fabry disease. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder due to the absent or deficient activity of lysosomal hydrolase a-galactosidase A (α-Gal A), which leads to the accumulation of its substrates in various organs and tissues. Classic clinical manifestations include angiokeratomas, proteinuria, renal fa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD",
"FD"
] | [
"rare X-linked",
"two known variants in the GLA gene, c.1176_1179delGAAG and c.782G>A (p.G261D)",
"novel variant c.440G>A (p.G147E) which is likely pathogenic",
"coexistence of gene variants related to systemic autoinflammatory diseases"
] | [
"angiokeratomas",
"renal failure",
"neuropathic pain",
"left ventricular hypertrophy",
"Fever",
"recurrent fever of unknown origin",
"arthralgia/arthritis",
"recurrent fever of unknown origin",
"recurrent fever"
] | null | [
"Chinese Han"
] | [
"absent or deficient activity of lysosomal hydrolase a-galactosidase A (α-Gal A)",
"proteinuria"
] | null |
fabry:32791958 | Nail-patella-like renal disease masquerading as Fabry disease on kidney biopsy: a case report. | [
"Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B) have been associated with focal segmental glomerulosclerosis (FSGS) without the extra-renal or ultrastructural manifestations of Nail-patella syndrome (NPS) known as Nail-patella-like renal disease (NPLRD). Fabry disease (FD) is an X-linked ly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B)\n <span style=\"font-size: 0.8em; ... | [
"focal segmental glomerulosclerosis (FSGS)",
"Nail-patella syndrome (NPS)",
"Nail-patella-like renal disease (NPLRD)",
"Fabry disease (FD)",
"lysosomal disease",
"chronic kidney disease",
"FD",
"chronic kidney disease (CKD)",
"NPLRD",
"atypical forms",
"rare Mendelian kidney diseases"
] | [
"Genetic changes in the LIM homeobox transcription factor 1 beta (LMX1B)",
"X-linked"
] | [
"acroparesthesia",
"angiokeratomas",
"cornea verticillata",
"hypertrophic cardiomyopathy",
"strokes"
] | [
"individualized medicine"
] | null | null | [
"without the extra-renal or ultrastructural manifestations",
"genetic testing for FD was negative"
] |
fabry:32773220 | Ventricular Septal Myectomy for the Treatment of Left Ventricular Outflow Tract Obstruction Due to Fabry Disease. | [
"Fabry cardiomyopathy can cause symptomatic left ventricular outflow tract obstruction. We review a case of Fabry cardiomyopathy mimicking hypertrophic cardiomyopathy on echocardiography with severe left ventricular outflow tract obstruction treated with ventricular septal myectomy."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry cardiomyopathy",
"Fabry cardiomyopathy mimicking hypertrophic cardiomyopathy"
] | null | [
"symptomatic left ventricular outflow tract obstruction",
"severe left ventricular outflow tract obstruction"
] | [
"ventricular septal myectomy"
] | null | null | null |
fabry:32714835 | Massive accumulation of globotriaosylceramide in various tissues from a Fabry patient with a high antibody titer against alpha-galactosidase A after 6 years of enzyme replacement therapy. | [
"Fabry disease is an X-linked metabolic disorder due to a pathogenic mutation of the GLA gene. The accumulation of globotriaosylceramide (Gb3) damages multiple organs, including the heart, kidney and nervous system, especially in classical type Fabry disease. Enzyme replacement therapy (ERT) using recombinant alpha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"metabolic disorder",
"classical type Fabry disease",
"Fabry disease",
"classical type Fabry"
] | [
"X-linked",
"pathogenic mutation of the GLA gene"
] | [
"sudden death",
"organ damage",
"major organ involvement"
] | [
"Enzyme replacement therapy (ERT) using recombinant alpha-galactosidase A",
"treated with ERT for 6 years",
"ERT",
"ERT"
] | null | [
"high antibody titer against recombinant alpha-galactosidase A",
"elimination of Gb3"
] | [
"even after long term ERT"
] |
fabry:32712909 | A case of latent heterozygous Fabry disease in a female living kidney donor candidate. | [
"A 52-year-old woman had been found to have hematuria at her annual checkup 5 years in a row. She hoped to donate her kidney to her husband, so we performed a percutaneous kidney biopsy at our department. It was difficult for us to detect apparent abnormalities under a light microscopic examination, and she was det... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 52-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"heterozygous Fabry disease"
] | [
"GLA gene mutation"
] | [
"hematuria",
"suppress the progression of organ damage"
] | [
"donate her kidney to her husband",
"living kidney transplantation",
"kidney donation",
"living kidney transplantation as a donor",
"chaperone therapy",
"kidney donation",
"kidney donation"
] | null | null | [
"difficult for us to detect apparent abnormalities",
"light microscopic examination",
"sample for electron microscopy was not evaluated",
"No findings or episodes were observed",
"normal range of leukocyte α-Gal A activity",
"could not confirm a diagnosis of Fabry disease"
] |
fabry:32699723 | Rare Etiology of Renal Failure in a 25-Year-Old Caucasian Man: Fabry Disease With a Novel Mutation of GLA Gene. | [
"Fabry disease (FD) is an X-linked recessive lysosomal storage disease caused by a mutation of the galactosidase alpha (GLA) gene, leading to deficiency of α-galactosidase A (alpha-Gal A). This deficiency results in a progressive, multiorgan accumulation of glycolipids, most notably globotriaosylceramide (Gb3), lea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disease",
"FD",
"early-onset classical type 1",
"late-onset type 2",
"FD"
] | [
"X-linked recessive",
"mutation of the galactosidase alpha (GLA) gene",
"mutations of the GLA gene",
"novel mutation of c.281G>T; p.Cys94Phe"
] | [
"multiorgan failure",
"premature death",
"progressive renal disease",
"renal failure",
"peripheral neuropathy",
"end-stage renal failure"
] | [
"hemodialysis (HD)",
"HD",
"referred to a renal transplant center and genetic counseling"
] | [
"Caucasian"
] | [
"deficiency of α-galactosidase A (alpha-Gal A)",
"deficiency",
"severely reduced alpha-Gal A activity (<0.4 nmol/mL/hour)"
] | [
"no significant medical history"
] |
fabry:32641113 | Cornea Verticillata in classical Fabry disease, first from Sri Lanka: a case report. | [
"Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance. Confirmation requires genetic analysis of Galactosidase Alpha (GLA) Gene, which is... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"rare inborn error of metabolism",
"lysosomal storage disorder",
"Fabry disease"
] | [
"X linked inheritance",
"missense mutation of the Galactosidase Alpha (GLA) Gene (c.136C > T)"
] | [
"afebrile convulsion",
"chronic burning sensation of hands and feet",
"anhidrosis for 2 years duration",
"Cornea Verticillata"
] | null | [
"Sri Lanka"
] | [
"deficiency of α galactosidase A enzyme",
"low α galactosidase A enzyme levels"
] | null |
fabry:32612933 | Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres. | [
"Enzyme replacement therapy (ERT) has been shown to stabilize certain aspects of Fabry disease (FD). However, in some patients on ERT, high antibody titres have been documented, with limited clinical improvement in systemic manifestations and often with significant adverse drug reactions. We present two related ado... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease (FD)",
"FD",
"FD"
] | [
"4.5 kb GLA deletion",
"large GLA deletion"
] | [
"limited clinical improvement in systemic manifestations",
"significant adverse drug reactions",
"recurrent infusion-associated reactions",
"continued malaise",
"gastrointestinal symptoms",
"neuropathic pain",
"increasing anxiety related to their disease"
] | [
"Enzyme replacement therapy (ERT)",
"ERT",
"3-year period of ERT",
"ERT",
"premedication and prolonged infusion times",
"3-year period of ERT",
"stop ERT",
"ERT"
] | null | [
"high antibody titres",
"profound reduction in α-galactosidase A (α-gal A) enzyme activity",
"increasing IgG antibody titres against α-gal A",
"serial urine globotriaosylceramide (Gb3) measurements showed an upward trend from 333 to 2260 μg/mmol creatinine",
"1165 to 2260 μg/mmol creatinine",
"Markedly in... | [
"not amenable to chaperone therapy",
"apparent lack of response to ERT",
"lack of its efficacy",
"ERT or other currently approved therapies does not"
] |
fabry:32590976 | First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder due to deficient alpha-galactosidase activity leading to intracellular glycosphingolipid accumulation. Multiple variants have been reported in the GLA gene coding for alpha-galactosidase, and the question of the pathogenicity of rare variants needs to be... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"Fabry disease"
] | [
"X-linked",
"Multiple variants",
"in the GLA gene coding for alpha-galactosidase",
"rare heterozygous variant called c.610 T > C was documented in GLA gene",
"GLA c.610 T > C variant"
] | [
"angiokeratoma",
"acroparesthesia",
"renal-predominant clinical presentation"
] | [
"ACE inhibitor"
] | null | [
"deficient alpha-galactosidase activity",
"persistent proteinuria",
"lysoGb3 was elevated (3 N)",
"rapid decrease in proteinuria",
"mild proteinuria"
] | [
"otherwise uncomplicated first pregnancy",
"no cardiac or cerebral involvement of Fabry disease on magnetic resonance imaging",
"While blood enzymatic activity of alpha-ga lactosidase was normal",
"renal function has remained normal",
"normal cardiac echography"
] |
fabry:32586128 | Fabry disease due to G171S GLA mutation: An atypical small nerve fiber sparing variant? | [
"To describe the ocular manifestations and in vivo confocal microscopic findings in a patient carrying the recently described hemizygous G171S GLA gene mutation.",
"A 63-year-old Albanian male patient was evaluated for cataract surgery. Anamnesis showed pacemaker implantation in left ventricular hypertrophy, chro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ocular manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"chronic kidney disease",
"Fabry disease",
"Fabry disease"
] | [
"recently described hemizygous G171S GLA gene mutation",
"hemizygous c.511G>A mutation (G171S - p.Gly171Ser) of the GLA gene was identified",
"GLA G171S mutation"
] | [
"ocular manifestations",
"late onset of sporadic acroparesthesias",
"Bilateral cornea verticillata",
"increased tortuosity in conjunctival and retinal vessels",
"nerve fiber number, density, and length in the corneal sub-basal nerve plexus were preserved",
"Cornea verticillata",
"vascular anomalies",
... | [
"cataract surgery",
"pacemaker implantation in left ventricular hypertrophy",
"initiation of enzyme replacement therapy",
"genetic counseling",
"early initiation of enzyme replacement therapy"
] | [
"Albanian",
"Albanian descent"
] | [
"Alpha-galactosidase A activity was almost absent"
] | null |
fabry:32566958 | Angiokeratomas and treatment with enzyme replacement therapy in a patient with Fabry disease. | [
"Angiokeratomas are the cutaneous hallmark of Fabry disease. Although it is well established that enzyme replacement therapy (ERT) prevents or slows the progression of disease on target organs in the majority of patients, the long-term effect of ERT on angiokeratomas remains unknown. We present a patient diagnosed ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Fabry disease",
"Fabry disease"
] | null | [
"Angiokeratomas",
"slows the progression of disease on target organs",
"angiokeratomas",
"rapid progression of new angiokeratomas in typical regions",
"new angiokeratomas have not arisen nor have existing ones enlarged",
"partial regression of the angiokeratomas",
"regression of left ventricular hypertr... | [
"enzyme replacement therapy (ERT)",
"ERT",
"treatment with ERT",
"treated with ERT for 10 years",
"long-term ERT",
"ERT"
] | null | null | null |
fabry:32566446 | Post-transplant de-novo renal phospholipidosis in a kidney transplant recipient: Fabry disease or something else? | [
"Renal phospholipidosis is a rare cause of proteinuria and kidney dysfunction. We describe a kidney transplant recipient who presented with slowly rising serum creatinine, nephrotic range proteinuria, and lower extremity edema 10 years post transplant. He was diagnosed with renal phospholipidosis on the transplant ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Renal phospholipidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Renal phospholipidosis",
"renal phospholipidosis",
"drug-induced renal phospholipidosis"
] | null | [
"kidney dysfunction",
"lower extremity edema",
"stabilization of kidney function"
] | [
"kidney transplant recipient",
"post transplant",
"chronic use of sertraline",
"Sertraline was discontinued"
] | null | [
"proteinuria",
"slowly rising serum creatinine",
"nephrotic range proteinuria",
"proteinuria declined"
] | [
"did not have prior history or current symptoms or signs of Fabry disease",
"Serum α-galactosidase level was normal"
] |
fabry:32515527 | AA amyloidosis associated with Fabry disease. | [
"Fabry disease (FD) is the second most common lysosomal storage disorder, carrying a large morbidity and mortality. It has been recently reported that lysosomal storage disorders could cause inflammation and, subsequently, AA amyloidosis (AAA). Our aim was to describe AAA cases occurring in the course of FD.",
"W... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"lysosomal storage disorders",
"AA amyloidosis (AAA)",
"AAA",
"FD",
"both AAA and FD",
"Fabry",
"AAA",
"AAA",
"nephrotic syndrome",
"Fabry disease",
"AAA"
] | [
"heterozygous GLA mutations",
"genetic disease"
] | [
"inflammation",
"inflammation"
] | null | [
"Europe",
"Algeria"
] | null | null |
fabry:32499824 | Recurrent arterial thrombosis in a patient with Fabry disease: case report. | [
"Fabry disease is a rare disease, defined as an X-linked lysosomal deposition disease that presents with multisystemic symptoms, including vascular impairment with thrombotic events. A 57-year-old female patient diagnosed with Fabry disease 11 years previously, presented with hyperhidrosis, hypoacusis, and angioker... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal deposition disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"multisystemic symptoms",
"vascular impairment",
"thrombotic events",
"hyperhidrosis",
"hypoacusis",
"angiokeratoma on the hands",
"episode of ischemic stroke",
"chronic acute thrombosis in the right lower limb",
"temporary improvement",
"recent relapse of the condition",
"Thrombotic events",
... | [
"stent angioplasty"
] | null | null | null |
fabry:32477981 | Angiokeratoma Corporis Diffusum: An Uncommon Case with Suspected Anderson Fabry Disease. | [
"Angiokeratomas are variable sized hyperkeratotic vascular papules that are characterized histologically by superficial dilated capillaries in papillary dermis with epidermal proliferation. They can occur as a single lesion to a generalized form (angiokeratoma corporis diffusum). Angiokeratoma corporis diffusum tho... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Anderson Fabry disease",
"Anderson fabry disease"
] | null | [
"Angiokeratomas",
"variable sized hyperkeratotic vascular papules",
"superficial dilated capillaries in papillary dermis with epidermal proliferation",
"generalized form",
"angiokeratoma corporis diffusum)",
"Angiokeratoma corporis diffusum",
"angiokeratoma corporis diffusum",
"acroparesthesias",
"f... | null | null | [
"lysosomal enzyme deficiencies"
] | null |
fabry:32445405 | Pulse-cancellation echocardiography in Fabry disease diagnosis. | [
"Pulse-cancellation imaging is a novel echocardiographic imaging modality developed for detection of myocardial fibrosis. This technique cancels echocardiographic reflections from the normal myocardium but clearly displays the abnormal tissue. We describe, for the first time, pulse-cancellation echocardiography app... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Pulse-cancellation imaging\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry disease",
"Fabry disease"
] | null | [
"myocardial fibrosis",
"echocardiographic reflections from the normal myocardium",
"abnormal tissue",
"myocardial involvement"
] | null | null | null | null |
fabry:32435590 | Two related Chinese Fabry disease patients with a p.N215S pathological variant who presented with nephropathy. | [
"Fabry disease is an X-linked lysosomal storage disease resulting from a mutation in the GLA gene that encodes α-galactosidase A. The p.N215S (c.644A > G [p.Asn215Ser]) genotype is the most common later-onset variant reported in individuals of European or North American descent. It is usually referred to as a cardi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"nephropathy",
"Fabry disease"
] | [
"X-linked",
"p.N215S (c.644A > G [p.Asn215Ser]) genotype",
"later-onset variant"
] | [
"cardiac variant",
"manifestations in other organ systems"
] | null | [
"European",
"North American descent",
"Chinese"
] | null | null |
fabry:32407966 | Late-Onset Fabry Disease Presenting With Ventricular Tachycardia Originating From Typical Inferolateral Scar. | [
"Late-onset cardiac Fabry disease is not uncommon among patients with unexplained left ventricular hypertrophy. Despite a less severe phenotype, life-threatening complications are possible in late-onset cardiac Fabry and may be the first presentation of the disease. Classical imaging features support the diagnosis;... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Late-onset cardiac Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Late-onset cardiac Fabry disease",
"late-onset cardiac Fabry",
"coexistence of Fabry and ischemic heart disease"
] | null | [
"unexplained left ventricular hypertrophy",
"life-threatening complications",
"ischemic features"
] | null | null | null | [
"absence of obstructive coronary artery disease"
] |
fabry:32397962 | Fabry disease presenting as bilateral medial medullary infarction with a "heart appearance" sign: a case report. | [
"The etiologic determinants of cryptogenic stroke remain a diagnostic challenge in clinical practice. Fabry disease (FD) is one of the monogenic causes of stroke that may remain unrecognized as a potential contributing causative factor, because of its rarity and difficulty in diagnosis. We report a case with rare b... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The etiologic determinants of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cryptogenic stroke\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Fabry disease (FD)",
"FD",
"FD",
"FD",
"FD"
] | [
"monogenic",
"missense mutation of the alpha-galactosidase A gene"
] | [
"cryptogenic stroke",
"stroke",
"rare bilateral medial medullary infarction manifesting as \"heart appearance\"",
"acute dysarthria",
"mild tetraparesis",
"progressive flaccid quadriplegia",
"tongue weakness",
"heart-shaped appearance of bilateral medial medullary infarction",
"two new subcortical i... | [
"ventilator support"
] | [
"Chinese"
] | [
"very low alpha galactosidase A levels"
] | null |
fabry:32367302 | [Diffuse hyperkeratotic papules of the lower abdomen and genital region in a 38-year old male patient]. | [
"A patient with diffuse angiokeratomas of the lower abdomen and genital region was diagnosed with Fabry disease on the basis of genetic testing. Fabry disease is an X-linked lysosomal storage disease that can affect several organ systems including the heart or kidneys, resulting in reduced median survival. Pathogen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n diffuse angiokeratomas of the lower abdomen and genital region\n <span style=\"font-size: 0... | [
"Fabry disease",
"Fabry disease",
"lysosomal storage disease",
"Fabry disease"
] | [
"X-linked"
] | [
"diffuse angiokeratomas of the lower abdomen and genital region",
"affect several organ systems including the heart or kidneys"
] | [
"lifelong enzyme replacement therapy",
"chaperone therapy"
] | null | [
"deficiency of the lysosomal enzyme α‑galactosidase A (α-GAL A)"
] | null |
fabry:32347011 | Fabry cardiomyopathy: Gb3-induced auto-reactive panmyocarditis requiring heart transplantation. | [
"Resistance to enzyme replacement therapy (ERT) is a major therapeutic challenge in Fabry disease (FD). Recent reports attribute to immune-mediated inflammation a main role in promoting disease progression and resistance to ERT. Aim of the study is to report a Gb3-induced auto-reactive panmyocarditis causing ineffi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Resistance to enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Fabry disease (FD)",
"Gb3-induced auto-reactive panmyocarditis",
"FD cardiomyopathy (CM)",
"Fabry",
"Gb3-induced auto-reactive myocarditis",
"FDCM"
] | null | [
"severe electrical instability",
"incoming ventricular fibrillation",
"severe virus-negative myocarditis extended to cardiomyocytes, intramural coronary vessels, conduction tissue, and subepicardial ganglia"
] | [
"cardiac transplantation",
"3-year ERT",
"implemental immunosuppressive therapy"
] | null | [
"positive for anti-Gb3, anti-heart, and anti-myosin antibodies",
"high amount production of inflammatory cytokine IL1-β, IL-6, IL-8, and TNF-α",
"phenotypic analysis of PBMC showed a lower frequency of CD8 (9.2%) vs. 19.3% and NKT cells (1.6% vs. 2.4%)"
] | [
"Resistance to enzyme replacement therapy (ERT)",
"resistance to ERT",
"inefficacy of ERT",
"ERT resistance"
] |
fabry:32301697 | Fabry disease in two brothers with proteinuria: A case report and Fabry disease review
. | [
"Fabry disease is an X-linked lysosomal storage disease characterized by alpha-galactosidase A (α-Gal A) enzyme deficiency. It can present with a variety of clinical manifestations ranging from complaints of extremity numbness and tingling to end-stage renal disease, cardiovascular disease, or stroke. Although it c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"end-stage renal disease",
"cardiovascular disease",
"chronic kidney disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"extremity numbness",
"tingling",
"stroke",
"kidney manifestations"
] | null | null | [
"alpha-galactosidase A (α-Gal A) enzyme deficiency",
"proteinuria",
"proteinuria",
"proteinuria"
] | [
"etiology of kidney disease is unknown"
] |
fabry:32292674 | An Atypical Cardiac Manifestation of Fabry Disease from a Novel Pathological Variant on the GLA Gene. | [
"Fabry disease (FD) is one of the most common lysosomal storage disorders and is caused by an X-linked progressive inborn error of metabolism in the alpha-galactosidase A (α-Gal A) gene. This leads to intracellular accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3), throughout the body. The impa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorders",
"FD",
"unexplained",
"FD",
"non-classical FD"
] | [
"X-linked progressive inborn error of metabolism in the alpha-galactosidase A (α-Gal A) gene",
"variants on the GLA gene which codes for α-Gal A production",
"variants on this gene",
"variant of unknown significance for the GLA gene"
] | [
"multisystem organ dysfunction",
"idiopathic cardiovascular disorders",
"left ventricular hypertrophy (LVH)",
"unusual non-classic",
"asymptomatic LVH",
"early",
"unexplained LVH"
] | [
"prompt treatment with enzyme replacement therapy"
] | [
"Caucasian"
] | [
"measurement of α-Gal A leukocyte activity showed low levels",
"low α-Gal A leukocyte activity"
] | [
"absence of known risk factors"
] |
fabry:32281532 | Fabry Disease Screening in Patients With Kidney Transplant: A Single-Center Study in Turkey. | [
"Fabry disease is a rare X-linked multisystemic lysosomal storage disorder of the glycosphingolipid metabolic pathway. Nephropathy is one of the most important complications of Fabry disease, and patients with classical phenotype are at risk of developing endstage kidney disease. In this study, we investigated the ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"multisystemic lysosomal storage disorder of the glycosphingolipid metabolic pathway",
"Nephropathy",
"Fabry disease",
"endstage kidney disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"rare X-linked",
"GLA mutation",
"mutation in the α-galactosidase A gene, c.1093_1101dup [p.Tyr365_lle367dup])",
"p.A143T (c.427G>A) mutation of unknown significance",
"p.D313Y (c.937G>T) heterozygous mutation"
] | [
"renal involvement"
] | [
"kidney transplant recipients",
"kidney transplant recipients",
"functioning grafts",
"kidney transplant recipients",
"kidney transplant recipients",
"after transplant was 79 ± 56 months",
"kidney transplant",
"kidney transplant recipients"
] | null | [
"leukocyte α-galactosidase A enzyme activity",
"estimated glomerular filtration rate was 66.8 ± 21 mL/min/1.73 m²",
"(63.7 and 67.3 nmol/h/mg protein)"
] | [
"leukocyte ?-galactosidase A enzyme activity was normal in"
] |
fabry:32246457 | Is the alpha-galactosidase A variant p.Asp313Tyr (p.D313Y) pathogenic for Fabry disease? A systematic review. | [
"The identification of pathogenic GLA variants plays a central role in the establishment of a definite Fabry disease (FD) diagnosis. We aimed to review and interpret the published data on the p.Asp313Tyr (p.D313Y) variant pathogenicity and clinical relevance. We performed a systematic review of peer-reviewed public... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The identification of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n pathogenic GLA variants\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Fabry disease (FD)",
"FD",
"kidney, heart, neurologic disorders",
"FD",
"neurologic disorders"
] | [
"pathogenic GLA variants",
"p.Asp313Tyr (p.D313Y)",
"p.Asp313Tyr variant",
"p.Asp313Tyr",
"p.Asp313Tyr",
"p.Asp313Tyr"
] | [
"manifestations in the brain vessels"
] | null | null | [
"alpha-galactosidase A enzyme activity",
"levels of the biomarkers globotriaosylceramide (Gb3) and sphingosine-globotriaosylceramide (lyso-Gb3)",
"high residual enzyme activity"
] | [
"low frequency of clinical features specific for FD",
"non-elevated lysoGb3 /Gb3 concentrations",
"lack of intracellular Gb3 accumulation in biopsies in the p.Asp313Tyr carriers"
] |
fabry:32238663 | Urinary Mulberry Cells as a Biomarker of the Efficacy of Enzyme Replacement Therapy for Fabry Disease. | [
"Mulberry cells are often present in the urinary sediments of patients with Fabry disease (FD). We herein report two patients with FD undergoing enzyme replacement therapy (ERT). A 41-year-old man was diagnosed based on lack of α-galactosidase A activity. ERT was subsequently administered. A 40-year-old woman was d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Mulberry cells are often present in the urinary sediments\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Fabry disease (FD)",
"FD"
] | null | [
"renal function of"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"ERT",
"ERT"
] | null | [
"lack of α-galactosidase A activity"
] | [
"deteriorated"
] |
fabry:32123796 | Ventricular fibrillation associated with vasospastic angina pectoris in Fabry disease: a case report. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from a deficiency in alpha-galactosidase A. The major causes of death due to cardiac complications include life-threatening arrhythmias. In addition, life-threatening arrhythmias may be related to myocardial fibrosis assessed by late gadolinium... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"vasospastic angina pectoris",
"FD"
] | [
"X-linked"
] | [
"death",
"cardiac complications",
"life-threatening arrhythmias",
"life-threatening arrhythmias",
"myocardial fibrosis",
"sinus bradycardia",
"left ventricular hypertrophy",
"ventricular fibrillation (VF)",
"VF",
"ST elevation in the inferior leads with reciprocated ST depression",
"coronary spa... | [
"Enzyme replacement therapy using 1.0 mg/kg agalsidase-β",
"intracoronary acetylcholine injection"
] | null | [
"plasma alpha-galactosidase A activity was low"
] | [
"no LGE in the myocardium",
"no organic stenosis",
"Ventricular fibrillation was not observed",
"the patient received calcium antagonists",
"without LGE"
] |
fabry:32042454 | Demographic and Clinical Characteristics of the Full 2015-2018 Cohort of Romanian Fabry Disease Patients. | [
"Fabry disease (FD) is a rare genetic lysosomal disease with an estimated prevalence of 1:100000. Mutations on the GLA gene lead to alpha-galactosidase deficiency and multiorgan involvement due to sphingolipid accumulation. Our aim was to present and analyze the demographic and clinical characteristics of the Fabry... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare genetic lysosomal disease",
"Fabry",
"Fabry",
"FD",
"Fabry disease"
] | [
"Mutations on the GLA gene"
] | [
"multiorgan involvement",
"cardiac, renal, neurologic, ophthalmologic and otologic burden",
"organ damage",
"cardiac",
"cutaneous",
"neurologic",
") involvements",
"multiorgan involvement",
"important psychological and social impact on"
] | null | [
"Romania",
"Romania"
] | [
"alpha-galactosidase deficiency"
] | null |
fabry:31987665 | Prevalence of Anderson-Fabry disease in a cohort with unexplained late gadolinium enhancement on cardiac MRI. | [
"Fabry disease is a rare X-linked genetic disorder in which cardiac manifestations include LVH, contractile dysfunction, and fibrosis, visible on cardiac MRI (cMRI) as late gadolinium enhancement (LGE) of the myocardium. Fabry's disease is an important diagnosis to make as treatment is available as lifelong replace... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry's disease",
"Fabry disease",
"LVH",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"late-onset Fabry disease",
"Fabry disease"
] | [
"rare X-linked genetic disorder"
] | [
"cardiac manifestations",
"LVH",
"contractile dysfunction",
"fibrosis",
"late gadolinium enhancement (LGE) of the myocardium",
"unexplained LGE",
"idiopathic LV dysfunction",
"idiopathic ventricular arrhythmia",
"LGE",
"unexplained LGE",
"pattern and distribution of LGE on cMRI",
"patchy mid-w... | [
"lifelong replacement of the deficient enzyme"
] | null | null | [
"without a genetic diagnosis of an alternate cardiomyopathy such as HCM or biopsy-proven infiltrative cardiomyopathy such as sarcoid or amyloid"
] |
fabry:31969771 | RECURRENT ATYPICAL OPTIC NEURITIS AS THE LEADING SIGN OF FABRY DISEASE. | [
"Acute optic neuritis has the age and sex adjusted incidence of 1-5/100,000 in general population. It is mostly a disorder affecting young Caucasian women (31-32 years). Patients present to a wide range of clinicians including general practitioner, emergency physician, ophthalmologist, neurologist, etc. There are t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Acute optic neuritis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Acute optic neuritis",
"optic neuritis",
"optic neuritis",
"left optic neuritis",
"eclampsia",
"demyelinating disorder of the central nervous system",
"Fabry disease",
"optic neuritis",
"Fabry disease",
"acute atypical neuroinflammatory disease"
] | null | [
"visual loss on the left eye",
"demyelinating lesions in frontal and parietal lobe, periventricularly, in mesencephalon and right cerebellar hemisphere",
"renal dysfunction",
"hypothyroidism",
"miscarriage in the 6th month of pregnancy",
"regression of visual disturbances on the left eye",
"renal dysfun... | [
"corticosteroid therapy (methylprednisolone 1 g) for 5 days",
"acute treatment"
] | [
"Caucasian"
] | null | [
"magnetic resonance angiography was normal"
] |
fabry:31934472 | Pregnancy Outcome after Exposure to Migalastat for Fabry Disease: A Clinical Report. | [
"Our patient was a 37-year-old woman with Fabry disease (GLA p.R112H) with a medical history of recurrent headache, nausea, vomiting, vertigo, and tobacco use (20 cigarettes/day). Fabry disease was diagnosed in 2005 when she experienced proteinuria, preeclampsia, and hypertension (201/130 mm Hg) during pregnancy (d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Our patient was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Fabry disease",
"Fabry disease",
"pregnancy",
"existing Fabry disease",
"pregnancy (18 weeks' gestation)",
"pregnancy"
] | [
"GLA p.R112H)"
] | [
"recurrent headache",
"nausea",
"vomiting",
"vertigo",
"preeclampsia",
"hypertension (201/130 mm Hg)",
"low birth weight"
] | [
"tobacco use (20 cigarettes/day)",
"delivered 50 cm, 3.4 kg healthy boy",
"Enzyme replacement therapy",
"enrolled in the phase 3 ATTRACT trial (ClinicalTrials.gov; NCT01218659)",
"migalastat",
"while taking hormonal contraceptives",
"migalastat",
"Migalastat and hormonal contraceptives were stopped",
... | null | [
"proteinuria",
"proteinuria (2166 mg/24 h)"
] | [
"without hypertension (131/68 mm Hg)",
"Fetal MRI was normal at ~29 weeks' gestation",
"pregnancy outcome was normal"
] |
fabry:31911921 | Hydroxychloroquine-induced renal phospholipidosis resembling Fabry disease in undifferentiated connective tissue disease: A case report. | [
"Fabry disease is a kind of lysosomal storage disease resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (GLA). A mutation in the GLA gene leads to a loss of activity of alpha-galactosidase A. Some drugs, such as hydroxychloroquine, can cause pathological changes similar to those usu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"undifferentiated connective tissue disease",
"hydroxychloroquine-induced renal phospholipidosis",
"hydroxychloroquine-induced renal phospholipidosis"
] | [
"mutation in the GLA gene"
] | [
"pathological changes similar to those usually seen in Fabry disease"
] | [
"hydroxychloroquine",
"Hydroxychloroquine treatment",
"hydroxychloroquine"
] | null | [
"deficient activity of the lysosomal hydrolase alpha-galactosidase A (GLA)",
"proteinuria",
"hematuria increased"
] | [
"initially thought to be indicators of Fabry disease",
"genetic analysis of the patient and her family members did not reveal mutations in the GLA gene"
] |
fabry:31867707 | A Case of Fabry Disease Presenting with Young Stroke and Fever. | [
"Although it is known that Fabry disease should be included in the differential diagnosis of young stroke and fever of unknown origin, it has not been reported in the literature of stroke with fever as the presentation of Fabry disease. This is relevant because stroke with fever may misguide the differential diagno... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Although it is known that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Fabry disease",
"Fabry disease",
"infective endocarditis",
"autoimmune diseases",
"Fabry disease"
] | [
"de novo mutation rather than being inherited"
] | [
"young stroke",
"fever of unknown origin",
"stroke with fever",
"stroke",
"fever",
"stroke",
"fever",
"acute multiple infarctions",
"fever",
"infectious and inflammatory origins",
"stroke with fever",
"stroke with fever"
] | [
"steroid"
] | null | null | [
"we could not identify the source of fever after fever workup",
"fever did not respond to one week of acetaminophen and antibiotics",
"without family history of Fabry disease"
] |
fabry:31847900 | Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations of the GLA gene, followed by deficiency in α-galactosidase A (α-gal) activity. Nephrotic syndrome, as the renal phenotype of FD, is unusual. Here, we report the rare case of a patient with FD with nephrotic syndrome whose proteinuria ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"Nephrotic syndrome",
"FD",
"FD",
"nephrotic syndrome",
"nephrotic syndrome",
"focal segmental glomerulosclerosis (FSGS)",
"FD",
"nephrotic syndromes",
"minimal change nephrotic syndrome",
"FSGS",
"FD",
"nephrotic syndrome",
"nephrotic ... | [
"X-linked",
"mutations of the GLA gene",
"GLA gene variant (M296I), which is known as a late-onset genetic mutation of FD"
] | [
"emesis",
"abdominal pain",
"facial edema"
] | [
"immunotherapy",
"immunotherapy",
"Immunotherapy (steroids and cyclosporine A)",
"enzyme replacement therapy",
"immunotherapy",
"immunosuppressive treatment"
] | [
"Japanese"
] | [
"deficiency in α-galactosidase A (α-gal) activity",
"proteinuria disappeared",
"white blood cell α-gal activity was very low",
"dramatically improved the massive proteinuria",
"proteinuria has further decreased"
] | null |
fabry:31840555 | IgA nephropathy suspected to be combined with Fabry disease or Alport syndrome: a case report. | [
"Immunoglobulin A (IgA) nephropathy is the most common glomerular disease, and it often manifests as persistent microscopic hematuria or gross hematuria. Fabry disease and Alport syndrome are hereditary diseases caused by mutation of genes, and these diseases are rare in China. At present, patients can be diagnosed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Immunoglobulin A (IgA) nephropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Immunoglobulin A (IgA) nephropathy",
"glomerular disease",
"Fabry disease",
"Alport syndrome",
"IgA nephropathy",
"Alport syndrome and Fabry disease",
"IgA nephropathy",
"hereditary kidney disease",
"Fabry disease",
"rare coexistence with Alport syndrome"
] | [
"hereditary diseases",
"mutation of genes",
"COL4A3 gene mutation"
] | [
"trend of remission"
] | [
"prednisone 40 mg once a day and dispersible tablets of mycophenolate mofetil 0.75 g two times a day"
] | [
"China"
] | [
"persistent microscopic hematuria",
"gross hematuria",
"hematuria",
"proteinuria"
] | null |
fabry:31660293 | Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients. | [
"Fabry disease is an X-linked lysosomal storage disorder which often presents with renal, cardiac, gastrointestinal, and nervous system abnormalities. Available enzyme replacement therapies have demonstrated efficacy at significantly reducing elevated biomarkers associated with increased disease activity, while imp... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"classical Fabry disease",
"classical Fabry",
"Fabry disease"
] | [
"X-linked"
] | [
"renal",
"cardiac",
"gastrointestinal",
"nervous system abnormalities",
"improving the clinical symptoms associated with Fabry disease",
"mitigating unnecessary organ damage",
"of clinical manifestations of disease"
] | [
"enzyme replacement therapies",
"initiation of enzyme replacement therapy prior to the onset of overt clinical disease",
"proactive approach"
] | null | [
"significantly reducing elevated biomarkers associated with increased disease activity",
"effectively reduces elevated biomarkers"
] | null |
fabry:31634893 | p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease. | [
"The authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fab... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report the case of a classic phenotype of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font... | [
"Fabry disease",
"Fabry",
"Fabry disease",
"Fabry disease"
] | [
"GLA gene variants",
"p.G360R mutation"
] | [
"left ventricular hypertrophy",
"stroke",
"clinical improvement",
"left ventricular hypertrophy",
"stroke"
] | [
"initiation of enzyme replacement therapy"
] | null | null | null |
fabry:31620600 | Ocular manifestations in a patient with de novo Fabry disease. | [
"Fabry disease (FD) is an X-linked, recessively inherited, rare, progressive, disorder of glycosphingolipid metabolism affecting multiple organs resulting in organ dysfunction. It is rare to find only one FD affected subject with a de novo mutation. Here we report a case of a 41-year-old Asian male diagnosed with d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare, progressive, disorder of glycosphingolipid metabolism",
"FD",
"de novo FD",
"de novo FDs",
"hereditary FDs"
] | [
"X-linked, recessively inherited",
"de novo mutation"
] | [
"affecting multiple organs",
"organ dysfunction",
"cornea verticillata",
"slightly tortuous, and aneurysmal dilatation of inferior bulbar conjunctival vessels",
"Cornea verticillata",
"inferior bulbar conjunctival vascular abnormalities",
"ocular abnormalities"
] | null | [
"Asian"
] | null | [
"Other imaging modalities showed unremarkable findings"
] |
fabry:31611903 | Novel GLA Mutation Promotes Intron Inclusion Leading to Fabry Disease. | [
"Fabry disease (FD) is a rare and underdiagnosed X-linked disorder resulting from the deficient activity of the lysosomal hydrolase α-galactosidase A, which leads to storage of complex glycosphingolipids inside of lysosomes in critical organs and tissues, impairing their functions and consequently resulting in a pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"progressive multisystem disease",
"FD",
"FD"
] | [
"X-linked disorder",
"mutations in the GLA gene",
"novel GLA insertion at position c.801+3 in intron 5 (c.801+2_801+3insT)",
"aberrant GLA transcripts",
"novel donor splice site was created promoting formation of an intron inclusion with 37 bp. The splice site was not recognized in the second transcript and... | null | null | [
"Brazilian"
] | [
"deficient activity of the lysosomal hydrolase α-galactosidase A",
"undetectable α-galactosidase A activity"
] | null |
fabry:31599343 | Restrictive cardiomyopathy in a patient with systemic sclerosis and Fabry disease: a case-based review. | [
"Systemic sclerosis (SSc) is a rare immune-mediated vasculopathy characterized by fibrosis of the skin and internal organs. Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene producing α-galactosidase-A enzyme (α-Gal A) deficiency. Being a systemic disease, cardiac invo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Systemic sclerosis (SSc)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Systemic sclerosis (SSc)",
"rare immune-mediated vasculopathy",
"Fabry disease (FD)",
"lysosomal storage disorder",
"systemic disease",
"FD",
"limited SSc (lcSSc)",
"cardiac variant of FD",
"FD",
"SSc associated with FD"
] | [
"X-linked",
"mutations in the GLA gene",
"heterozygous",
"GLA gene mutation"
] | [
"fibrosis of the skin and internal organs",
"cardiac involvement",
"heart failure",
"arrhythmia",
"sclerodactyly",
"Raynaud phenomenon",
"microvascular involvement",
"chest pain",
"second-degree A-V block",
"restrictive cardiomyopathy",
"heart involvement",
"abnormal thickening of lateral and ... | [
"enzymatic replacement (agalsidase alpha)"
] | null | [
"α-galactosidase-A enzyme (α-Gal A) deficiency",
"positive anti-centromere antibodies",
"high globotriaosylsphingosine (Lyso-Gb3) levels"
] | [
"without cardiovascular risk factors)",
"without clinical deterioration"
] |
fabry:31593141 | Coexistence of Fabry disease with IgM nephropathy: A case report. | [
"Coexistence of Fabry disease and IgM nephropathy is rare. The varying severity and unapparent clinical manifestation of Fabry disease makes it difficult to recognize when coexisting with another more prevalent cause of nephropathy requiring electron microscopy and genetic testing to confirm their coexistence.",
... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Coexistence of Fabry disease and IgM nephropathy\n <span style=\"font-size: 0.8em; font-weight: bold; line... | [
"Coexistence of Fabry disease and IgM nephropathy",
"Fabry disease",
"nephropathy",
"IgM nephropathy",
"coexisting Fabry disease",
"coexistence of Fabry disease with other nephropathy"
] | [
"missense mutation"
] | [
"Fabry disease presents with atypical phenotype"
] | [
"treated with angiotensin-converting enzyme inhibitors",
"After 2 months of treatment"
] | null | [
"proteinuria",
"urine protein to creatinine ratio of 0.21 g/g."
] | [
"without any clinical signs or family history of Fabry disease",
"Enzyme replacement therapy was not administered due to financial constraints"
] |
fabry:31584758 | Ocular findings in Fabry disease in Colombian patients | [
"Fabry disease is a rare X-linked disorder caused by an alpha-galactosidase enzyme deficiency, which leads to a progressive lysosomal glycosphingolipids accumulation, mainly globotriaosylceramide, in multiple organism tissues including the eye. This case series describes the first ophthalmological Colombian report ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"rare X-linked disorder"
] | [
"ocular signs",
"long-term complications",
"refractive defects",
"corneal verticillata pattern",
"posterior capsule lens brown-beige deposits",
"conjunctival and retinal tortuous vessels"
] | [
"multidisciplinary treatment"
] | [
"Colombian",
"Bogotá",
"Colombia"
] | [
"alpha-galactosidase enzyme deficiency"
] | null |
fabry:31576605 | A novel association between angiokeratoma corporis diffusum and acid sphingomyelinase deficiency. | [
"Angiokeratoma corporis diffusum refers to symmetrical clusters of minute red papules in a \"bathing trunk\" distribution and is considered the cutaneous hallmark of Fabry disease. Acid sphingomyelinase deficiency is an autosomal recessive sphingolipidosis, which presents with massive hepatosplenomegaly, pulmonary ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Fabry disease",
"sphingolipidosis"
] | [
"autosomal recessive"
] | [
"Angiokeratoma corporis diffusum",
"symmetrical clusters of minute red papules in a \"bathing trunk\" distribution",
"massive hepatosplenomegaly",
"pulmonary infiltrates",
"skeletal abnormalities",
"characteristic lesions of angiokeratoma corporis diffusum"
] | null | null | [
"Acid sphingomyelinase deficiency",
"acid sphingomyelinase deficiency"
] | null |
fabry:31566927 | Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study. | [
"Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha-galactosidase A (α-Gal A) enzyme activity, the absence of Mendelian segregation with an FD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)"
] | [
"GLA gene variants",
"GLA gene variant c.352C>T/p.Arg118Cys",
"c.352C>T/p.Arg118Cys variant"
] | [
"pathognomonic signs of FD renal damage",
"died",
"end-stage renal failure",
"renal damage"
] | [
"agalsidase beta 1 mg/kg IV infusion every other week"
] | null | [
"high residual alpha-galactosidase A (α-Gal A) enzyme activity",
"overt microalbuminuria",
"decreased glomerular filtration",
"plasma and urinary Gb3, α-Gal A enzyme activity",
"plasma globotriaosylsphingosine (Lyso-Gb3)"
] | [
"absence of Mendelian segregation with an FD phenotype",
"remaining asymptomatic at old ages",
"lack of globotriaosylceramide (Gb3) deposits in tissues",
"these were normal or almost normal",
"normal renal function"
] |
fabry:31542871 | A case of female Fabry disease revealed by renal biopsy. | [
"Fabry disease (FD) is an X-linked inherited glycosphingolipid metabolism disorder, therefore, heterozygous female FD patients display highly variable clinical symptoms, disease severity, and pathological findings. This makes it very challenging to diagnosing female patients with FD. A 69-year-old Japanese female w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"glycosphingolipid metabolism disorder",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD"
] | [
"X-linked inherited",
"heterozygous"
] | null | [
"Enzyme replacement therapy was performed in conjunction with renin-angiotensin aldosterone system inhibitors and beta-blockers",
"enzyme replacement therapy was introduced to the grandson"
] | [
"Japanese"
] | [
"proteinuria"
] | [
"most of the glomeruli showed minor glomerular abnormalities"
] |
fabry:31478997 | Intravenous Thrombolysis For Acute Ischemic Stroke in Fabry Disease. | [
"Fabry is a rare X-linked recessive genetic disease caused by α-galactosidase A deficiency. Cerebrovascular events occur in ∼13% of patients, whereas stroke may be the presenting clinical manifestation. There are very limited case reports of tissue plasminogen activator administration for acute ischemic stroke in p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Fabry",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"rare X-linked recessive genetic disease",
"pathogenic deletion in the GLA gene"
] | [
"Cerebrovascular events",
"stroke",
"acute ischemic stroke",
"right-sided hemiparesis",
"National Institutes of Health Stroke Scale score of 3",
"hyperdense lesion resembling carvenous angioma",
"clinical improvement",
"discharge National Institutes of Health Stroke Scale score of 1)",
"acute thalam... | [
"tissue plasminogen activator administration",
"intravenous thrombolysis",
"intravenous thrombolysis"
] | null | [
"α-galactosidase A deficiency",
"nondetectable α-galactosidase activity",
"excessively elevated lyso-Gb3"
] | null |
fabry:31393666 | Strong increase of leukocyte apha-galactosidase A activity in two male patients with Fabry disease following oral chaperone therapy. | [
"Fabry disease (OMIM 301500) is an X-linked disorder caused by alpha-galactosidase A (α-Gal A) deficiency. The administration of a pharmacologic chaperone (migalastat) in Fabry patients with amenable mutations has been reported to improve or stabilize organ damages and reduce lyso-Gb3 plasma level. An increase of α... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry",
"Fabry"
] | [
"OMIM 301500",
"X-linked disorder",
"amenable mutations",
"amenable GLA mutations",
"p.Asn215Ser (p.N215S) variant",
"N215S carriers"
] | [
"improve or stabilize organ damages",
"Cardiac parameters improved or stabilized"
] | [
"administration of a pharmacologic chaperone (migalastat)",
"migalastat",
"about 1 year of treatment with migalastat",
"migalastat"
] | null | [
"alpha-galactosidase A (α-Gal A) deficiency",
"reduce lyso-Gb3 plasma level",
"increase of α-Gal A activity",
"α-Gal A in vivo activity",
"important increase of α-Gal A activity in blood leukocytes reaching normal ranges of activity",
"increase of α-Gal A activity",
"normalization of enzyme activity"
] | null |
fabry:31371217 | Successful Combined Heart and Kidney Transplantation in Patient With Fabry's Disease: A Case Report. | [
"Fabry's disease is a X-linked hereditary disease that causes the accumulation of glycosphingolipids in tissues and organs, including the kidneys and heart. This can result in both chronic kidney disease and cardiac dysfunction, including arrhythmias and heart failure. We describe a case of a 62-year-old male with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"chronic kidney disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked hereditary disease"
] | [
"cardiac dysfunction",
"arrhythmias",
"heart failure",
"chronic renal failure",
"low-output systolic heart failure",
"both renal failure and heart failure"
] | [
"successful combined heart and kidney transplantation",
"organ transplantation"
] | null | null | [
"normal cardiac function and normal renal function 7 years after transplantation"
] |
fabry:31305407 | Fabry disease and immunoglobulin A nephropathy presenting with Alport syndrome-like findings: A case report. | [
"Fabry's disease is an X-linked inherited syndrome. Herein, we presented an unusual case of Fabry disease coexisting with immunoglobulin A nephropathy (IgAN) presenting with Alport syndrome-like pathological findings.",
"We report a 30-year-old male who presented with proteinuria and elevated serum creatinine and... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"Fabry disease coexisting with immunoglobulin A nephropathy (IgAN)",
"Alport syndrome",
"Fabry disease with immunoglobulin A nephropathy (IgAN)",
"FD coexisting with IgAN"
] | [
"X-linked inherited syndrome"
] | [
"Alport syndrome-like pathological findings",
"nonspecific clinical presentations"
] | [
"herbal medications",
"mecobalamin",
"maintained on these treatments",
"regular follow-up",
"reproductive intervention"
] | null | [
"proteinuria",
"elevated serum creatinine"
] | null |
fabry:31254961 | Multiple sclerosis and Fabry disease - diagnostic "mixup". | [
"A common disease like multiple sclerosis (MS) usually dominates the arena of demyelinating disorders; however, when a red flag such as a first relative family history of neurologic disease other than MS is present, the diagnostics may be more challenging. Recently, we have come across an intriguing clinical and di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A common disease like \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n multiple sclerosis (MS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"multiple sclerosis (MS)",
"demyelinating disorders",
"multiple sclerosis"
] | null | [
"optic neuritis",
"demyelinating CNS lesions"
] | null | null | null | null |
fabry:31243236 | Fabry Disease with Pacemaker Implantation as the Initial Event. | [
"Fabry disease (FD) is a rare X-linked hereditary disorder (Xq22) caused by a deficiency in alpha-galactosidase activity. A 34-year-old man was referred to our hospital because of renal dysfunction. He had previously undergone pacemaker implantation at 24 years of age. Investigations revealed undetectable alpha-gal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD nephropathy"
] | [
"rare X-linked hereditary disorder (Xq22)",
"carried the W340X mutation"
] | [
"renal dysfunction",
"cardiac disease",
"cardiac event",
"renal impairment"
] | [
"previously undergone pacemaker implantation at 24 years of age",
"Enzyme replacement therapy with agalsidase beta"
] | null | [
"deficiency in alpha-galactosidase activity",
"undetectable alpha-galactosidase A activity levels"
] | null |
fabry:31200018 | Fabry disease caused by the GLA p.Phe113Leu (p.F113L) variant: Natural history in males. | [
"The α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant was originally described in patients with late-onset cardiac forms of Fabry disease (FD), who had residual α-galactosidase activity. It has since emerged as the most commonly reported GLA variant in Portuguese subjects diagnosed with FD but is also preval... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant\n <span style=\"font-size: 0.8em; font-weig... | [
"late-onset cardiac forms of Fabry disease (FD)",
"FD",
"FD",
"late-onset form of FD",
"chronic kidney disease"
] | [
"α-galactosidase gene (GLA) c.337T>C/p.Phe113Leu variant",
"GLA variant",
"GLA Leu113 allele",
"the variant allele segregating in both cases with the same surrounding haplotype",
"GLA Leu113 allele",
"GLA Leu113 allele inherited",
"Hemizygosity for the GLA Leu113 variant allele",
"the Leu113 allele se... | [
"severe cardiac involvement",
"Clinically relevant cerebrovascular and kidney involvement",
"stroke"
] | null | [
"Portuguese",
"Italian",
"Portuguese",
"mainland Portugal",
"Madeira Island",
"Portuguese",
"Italian",
"Portuguese",
"Italian"
] | [
"residual α-galactosidase activity",
"incomplete α-galactosidase deficiency"
] | null |
fabry:31195166 | Why systematic literature reviews in Fabry disease should include all published evidence. | [
"Fabry disease is an X-linked inherited, progressive disorder of lipid metabolism resulting from the deficient activity of the enzyme α-galactosidase. Enzyme replacement therapy (ERT) with recombinant agalsidase, with intravenous infusions of either agalsidase beta or agalsidase alfa, is available and clinical expe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"progressive disorder of lipid metabolism",
"Fabry disease",
"Fabry disease",
"rare genetic disorder",
"Fabry disease"
] | [
"X-linked inherited"
] | null | [
"Enzyme replacement therapy (ERT) with recombinant agalsidase, with intravenous infusions of either agalsidase beta or agalsidase alfa",
"ERT",
"ERT",
"ERT",
"ERT",
"ERT"
] | null | [
"deficient activity of the enzyme α-galactosidase"
] | null |
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