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:31170963 | Central nervous system vasculopathy caused by Fabry disease: a case report. | [
"Fabry disease is rare, and the diagnosis is often delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three-dimensional T1 volumetric isotropic turbo spin echo acquisition), with the unique advantage of imaging th... | [
"<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",
"Fabry disease"
] | null | [
"vasculopathy of the central nervous system",
"vasculopathy",
"double vision 6d",
"vasculopathy of the central nervous system",
"symptoms were attenuated",
"the initial lesion in the vascular vessel disappeared, however, a new lesion appeared",
"although the previous lesion disappeared, a new lesion app... | [
"corticosteroids"
] | null | null | null |
fabry:31168218 | MULTIPLE SCLEROSIS OR FABRY DISEASE - PROS AND CONS. | [
"- Fabry disease is a rare X-linked inherited lysosomal storage disease affecting multiple organ systems, presenting in the central nervous system (CNS) as white matter lesions with underlying cerebral vasculopathy and autoinflammatory changes of the choroid plexus and leptomeninges. We present a young female patie... | [
"<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",
"eclampsia",
"Fabry disease",
"multiple sclerosis",
"multiple sclerosis",
"Fabry disease"
] | [
"rare X-linked inherited",
"Genetical testing for Fabry disease was positive (two heterozygous mutations)"
] | [
"affecting multiple organ systems",
"presenting in the central nervous system (CNS)",
"white matter lesions with underlying cerebral vasculopathy",
"autoinflammatory changes of the choroid plexus and leptomeninges",
"visual loss on the left eye",
"demyelinating lesions in the frontal and parietal lobe, pe... | [
"corticosteroid therapy (methylprednisolone) 1 g for 5 days",
"acute treatment",
"enzyme replacement therapy"
] | null | [
"mild pleocytosis",
"oligoclonal bands type 3",
"decreased alpha galactosidase activity values",
"increased Lyso GB3 values",
"positive oligoclonal bands"
] | [
"MR angiography was normal",
"normal blood brain barrier function"
] |
fabry:31139477 | Niemann-Pick Disease: An Underdiagnosed Lysosomal Storage Disorder. | [
"Lysosomal storage disorders (LSDs) collectively constitute a significant public health burden in developing countries. Commoner LSDs include Gaucher, Fabry, and Niemann-Pick disease (NPD), but many cases remain undiagnosed. With the high incidence of consanguineous marriages, South East Asian countries are expecte... | [
"<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 Lysosomal storage disorders (LSDs)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Lysosomal storage disorders (LSDs)",
"LSDs",
"Gaucher",
"Fabry",
"Niemann-Pick disease (NPD)",
"LSDs",
"NPD type A/B",
"NPD",
"NPD type C"
] | [
"consanguineous marriages",
"novel mutations, including a novel 4 bp insertion mutation (C>CCTGG) in exon 2 of the SMPD1 gene"
] | [
"hepatosplenomegaly"
] | null | [
"South East Asian"
] | [
"cytopenias"
] | null |
fabry:31088818 | Hydroxychloroquine-induced podocytopathy mimicking Fabry disease. | [
"Hydroxychloroquine (HCQ) is largely prescribed as an immunomodulator to prevent systemic diseases flares in patients with systemic lupus erythematous, rheumatoid arthritis, Sjogren's disease. Among reported side effects, HCQ can accumulate in lysosomes and induced phospholipidosis. Here, we report an HCQ-induced 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 Hydroxychloroquine (HCQ)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"systemic lupus erythematous",
"rheumatoid arthritis",
"Sjogren's disease",
"HCQ-induced podocytopathy mimicking Fabry disease (FD)",
"systemic disease",
"HCQ-induced podocytopathy"
] | null | [
"systemic diseases flares"
] | [
"Hydroxychloroquine (HCQ)",
"immunomodulator",
"HCQ",
"HCQ"
] | null | [
"persistence of proteinuria"
] | [
"FD has been ruled out by measuring enzymatic activity and genetic test",
"after immunological remission"
] |
fabry:31067829 | Genotype⁻Phenotype Correlation in a New Fabry-Disease-Causing Mutation. | [
"Background: Fabry disease (FD) is a rare X-linked inherited lysosomal storage disorder caused by α-galactosidase A deficiency leading to intracellular glycosphingolipid accumulation. FD manifestation is multisystem, and can differ depending on disease-related genetic variants. Currently, more than 700 different FD... | [
"<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)",
"lysosomal storage disorder",
"FD",
"Fabry disease"
] | [
"rare X-linked inherited",
"disease-related genetic variants",
"FD-causing mutations",
"human GLA gene",
"novel mutation",
"heterozygous",
"novel GLA gene exon 2 mutation, c.270C>G (p.Cys90Trp)",
"novel GLA mutation, c.270C>G (p.Cys90Trp)",
"heterozygous"
] | [
"multisystem",
"severe effects to the cardiovascular systems",
"progressive dyspnea that lasted seven years",
"reduced physical activity",
"periodic cardiac arrhythmia",
"left ventricular hypertrophy",
"acroparesthesia in her upper limbs",
"abdominal pain",
"white matter hyperintensities lesions",
... | null | [
"Lithuanian",
"Lithuanian"
] | [
"α-galactosidase A deficiency",
"mild proteinuria",
"decreased α-galactosidase A activity"
] | [
"normal diastolic function",
"without renal failure"
] |
fabry:31065389 | A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period. | [
"Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout the body, leading to major organ failure and premature death... | [
"<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",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"major organ failure",
"premature death",
"Cardiac involvement",
"left ventricular hypertrophy",
"arrhythmia",
"endothelial dysfunction at vascular wall",
"cardiomyopathy",
"serial electrocardiographic and echocardiographic changes"
] | null | null | [
"deficiency of α-galactosidase A activity"
] | null |
fabry:31020230 | Ventricular tachycardia: a presentation of Fabry disease case report. | [
"Fabry disease is an inherited rare metabolic disease caused by mutation in the GLA gene, encoding lysosomal enzyme alpha-galactosidase A. The disorder is a systemic disease that manifests as cerebrovascular and cardiac disease, chronic renal failure, skin lesion, peripheral neuropathy, and other abnormalities. Ven... | [
"<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",
"systemic disease",
"Fabry disease",
"acute coronary syndrome",
"LVH",
"rare",
"hereditary cardiomyopathy",
"Fabry disease",
"Fabry disease"
] | [
"inherited rare metabolic disease"
] | [
"cerebrovascular and cardiac disease",
"chronic renal failure",
"skin lesion",
"peripheral neuropathy",
"abnormalities",
"Ventricular tachycardia",
"episodes of shortness of breath",
"6-month history of malaise",
"acute onset of dyspnoea",
"non-specific chest heaviness",
"ventricular tachycardia... | [
"percutaneous coronary intervention (PCI) capable hospital",
"defibrillated"
] | null | null | [
"unobstructed coronary arteries",
"normal systolic function",
"did not demonstrate any late gadolinium enhancement"
] |
fabry:31020209 | New Fabry disease mutation confirms cardiomyopathy aetiology: a case report. | [
"Aetiologic diagnosis should be a priority in cardiomyopathy patients, as some of them may benefit from efficient specific treatment. To achieve this, the best approach is to look for clinical and paraclinical 'red flags'.",
"A 55-year-old woman was referred to our centre with the diagnoses of hypertrophic cardio... | [
"<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 Aetiologic diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"cardiomyopathy",
"hypertrophic cardiomyopathy (HCM)",
"chronic kidney disease Stage IIIA",
"FD",
"Fabry disease",
"FD"
] | [
"severe mutation on the GLA gene (gross deletion of 3' region of the GLA gene including coding parts of exon 7)",
"rare X-linked disease",
"mutations on the GLA gene",
"is X-linked"
] | [
"high blood pressure",
"long-term acroparesthaesia",
"signs of biventricular HCM, with short PR interval on the ECG and longitudinal systolic dysfunction on the echo"
] | [
"specific enzyme therapy"
] | null | [
"dyslipidaemia",
"slightly above normal values of troponin and brain natriuretic peptide (BNP)",
"Alpha-galactosidase (AGAL) levels were low",
"low levels of AGAL"
] | [
"otherwise normal clinical exam"
] |
fabry:31020198 | Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report. | [
"Fabry disease is an X-linked lysosomal storage disorder due to mutations in the gene encoding for alpha-galactosidase A, with subsequent accumulation of complex sphingolipids in multiple organs, including the heart. Female heterozygotes can develop cardiac involvement although this is usually milder and slower to ... | [
"<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"
] | [
"X-linked",
"mutations in the gene encoding for alpha-galactosidase A",
"heterozygotes",
"hemizygotes",
"with two separate pathological Fabry mutations (N215S, C202R; compound heterozygote)",
"compound heterozygote"
] | [
"cardiac involvement",
"progressive cardiac involvement",
"moderate segmental left ventricular dysfunction with wall thinning",
"low myocardial native T1",
"progressive cardiac involvement"
] | null | null | [
"troponin elevation"
] | [
"despite enzyme replacement therapy (ERT) with Replagal",
"despite ERT"
] |
fabry:30871880 | Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy. | [
"Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few... | [
"<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 Lysosomes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"mutation of the GLA gene on the X chromosome",
"The methylated allele of the GLA gene in the severe patient had a high proportion of wild alleles",
"mRNA expression level of the mutant allele",
"It was high in the severe patient and low in the siblings with few symptoms",
"mRNA expression level of the muta... | [
"severe symptoms"
] | null | null | [
"levels of p62",
"substrate for autophagy"
] | null |
fabry:30775256 | The effect of enzyme replacement therapy on clinical outcomes in male patients with Fabry disease: A systematic literature review by a European panel of experts. | [
"Enzyme replacement therapy (ERT) with recombinant human α-galactosidase has been available for the treatment of Fabry disease since 2001 in Europe and 2003 in the USA. Treatment outcomes with ERT are dependent on baseline patient characteristics, and published data are derived from heterogeneous study populations.... | [
"<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) with recombinant human α-galactosidase\n <span style=\"font-size: 0.8em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"chronic kidney disease"
] | null | [
"reduces/stabilizes left ventricular mass and cardiac wall thickness",
"improves nervous system, gastrointestinal, pain, and quality of life outcomes",
"clinical benefits on several outcomes and organ systems",
"organ damage",
"cardiac fibrosis"
] | [
"Enzyme replacement therapy (ERT) with recombinant human α-galactosidase",
"ERT",
"ERT",
"ERT",
"ERT",
"ERT",
"ERT"
] | [
"Europe"
] | [
"decreases globotriaosylceramide levels in plasma, urine, and in different kidney, heart, and skin cell types",
"decline in estimated glomerular filtration rate"
] | null |
fabry:30758152 | [The unusual couple: a clinical case of coexistence between aHUS and Fabry's disease]. | [
"Atypical hemolytic-uremic syndrome (aHUS) is a rare, potentially lethal (1-4) systemic disorder, capable of affecting both adults and children, causing thrombotic microangiopathy (TMA) (5) that leads to the formation of thrombus within small blood vessels with multiple organ failure. The pathogenesis of the aHUS 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 Atypical hemolytic-uremic syndrome (aHUS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Atypical hemolytic-uremic syndrome (aHUS)",
"systemic disorder",
"thrombotic microangiopathy (TMA)",
"aHUS",
"Fabry disease",
"rare tesaurismosis"
] | [
"genetic mutation of some proteins usually responsible for its self-regulation",
"X linked"
] | [
"formation of thrombus within small blood vessels",
"multiple organ failure",
"renal failure",
"stroke",
"heart attack",
"Multisystem clinical manifestations",
"serious degenerative pathology",
"resolution and/or slowing down the evolution of the disease, especially in the brain, heart and kidneys"
] | [
"treatment with eculizumab",
"early treatment",
"enzyme replacement therapy"
] | null | [
"uncontrolled activation of the complement system",
"deficiency of the lysosomal enzyme alpha-galactosidase A",
"physiological catabolism of glycosphingolipids"
] | null |
fabry:30738278 | Misdiagnosis of multiple sclerosis in a female heterozygote with Fabry's disease. | [
"Fabry's disease is an X-linked disorder of enzyme alpha-galactosidase A which leads to an accumulation of the glycolipids in lysosomes in vessels and organs. The disorder is rare with an estimated incidence of 1 in 40,000 and disease occurs more rarely in women than men. Paresthesias, hearing loss, and stroke are ... | [
"<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",
"disorder of enzyme alpha-galactosidase A",
"Fabry's disease"
] | [
"X-linked",
"heterozygote"
] | [
"Paresthesias",
"hearing loss",
"stroke",
"neurological manifestations",
"Brain magnetic resonance imaging abnormalities may mimic those seen in multiple sclerosis (MS)"
] | null | null | null | [
"mistaken for MS"
] |
fabry:30733880 | High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease. | [
"Renal involvement is associated with a greater morbidity and mortality in Fabry disease. Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo-interstitial fibrosis and glomerulosclerosis are present or may precede... | [
"<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 involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Fabry disease",
"Fabry nephropathy",
"FD"
] | [
"miR-21",
"miR-192",
"miR-433",
"miR-29",
"miR-200",
"genotype: [c.317T>G (p.L106R)]",
"miRNAs regulation through changes in TGF-β expression"
] | [
"Renal involvement",
"histological lesions",
"glomerulosclerosis",
"promote fibrosis",
"suppress fibrosis"
] | null | null | [
"Pathological albuminuria",
"pathological albuminuria",
"increased expression of Transforming Growth Factor-βeta (TGF-β)",
"activated by TGF-β",
"inhibited by TGF-β",
"αGalA decreased enzyme activity: 0.1 nmol/hour/liter",
"GFR: 104.4 mL/min/m2",
"urinary albumin excretion: 6.00 mg/day",
"decrease u... | null |
fabry:30725032 | [Neuropathy and Fabry's disease. Report of five cases]. | [
"Fabry's disease is an X-linked multisistemic lisosomal storage disorder caused by deficiency or absence in α-Galatosidase A. Symptoms develop early in childhood with small fiber neuropathy, autonomic disorders and skin lesions (angiokeratomas). More severe in males, patients develop over years heart disease (hyper... | [
"<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",
"multisistemic lisosomal storage disorder",
"heart disease (hypertrophic cardiomyopathy, bradycardia)",
"Fabry's disease"
] | [
"X-linked"
] | [
"small fiber neuropathy",
"autonomic disorders",
"skin lesions (angiokeratomas)",
"renal failure",
"transient ischemic attacks",
"stroke",
"decreased life expectancy",
"Neuropathic symptoms"
] | null | null | [
"proteinuria"
] | null |
fabry:30715505 | Monogenic mimics of Behçet's disease in the young. | [
"Monogenic autoinflammatory disorders (AID) and primary immunodeficiencies can present early in life with features that may be mistaken for Behçet's disease (BD). We aimed to retrospectively describe the clinical and laboratory features of 11 paediatric cases referred for suspected BD who turned out to have an alte... | [
"<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 Monogenic autoinflammatory disorders (AID)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Monogenic autoinflammatory disorders (AID)",
"primary immunodeficiencies",
"BD",
"monogenic disease mimicking BD",
"BD",
"BD",
"BD",
"genetic mimics of BD",
"BD"
] | [
"known disease-causing genetic mutations in: TNFAIP3",
", WDR1",
", NCF1, AP1S3, LYN, MEFV and GLA",
"Rare monogenic diseases"
] | [
"atypical BD features",
"systemic inflammation",
"oral ulceration",
"genital ulceration",
"ocular involvement",
"cutaneous manifestations"
] | null | [
"Caucasian",
"Pakistani",
"Turkish"
] | null | [
"mistaken for Behçet's disease (BD)"
] |
fabry:30656678 | Angiokeratomas, not everything is Fabry disease. | [
"Angiokeratoma corporis diffusum are benign capillary malformations typically associated with Fabry disease and other lysosomal storage disorders. Only in a few cases they appear in healthy individuals.",
"We carried out an exhaustive review of the literature on angiokeratomas and their main clinical, dermoscopy ... | [
"<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",
"lysosomal storage disorders",
"angiokeratomas",
"Fabry disease",
"lysosomal storage disorders",
"lysosomal storage disorders"
] | null | [
"Angiokeratoma corporis diffusum",
"benign capillary malformations",
"Angiokeratoma corporis diffusum",
"angiokeratomas",
"angiokeratoma corporis diffusum",
"angiokeratoma corporis diffusum"
] | null | null | null | null |
fabry:30595173 | Acute Decompensated Heart Failure After Initiation of Amiodarone in a Patient With Anderson-Fabry Disease. | [
"A 54-year-old man with the lysosomal storage disorder Anderson-Fabry disease (AFD) and cardiac involvement was placed on amiodarone for treatment of symptomatic paroxysmal atrial fibrillation. Shortly thereafter, he developed symptoms of acute decompensated heart failure, requiring hospital admission. Endomyocardi... | [
"<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 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"lysosomal storage disorder Anderson-Fabry disease (AFD)",
"AFD",
"AFD"
] | null | [
"cardiac involvement",
"symptomatic paroxysmal atrial fibrillation",
"symptoms of acute decompensated heart failure",
"amiodarone toxicity",
"heart failure resolved with return to baseline status"
] | [
"placed on amiodarone",
"hospital admission",
"Amiodarone was discontinued",
"Amiodarone"
] | null | [
"alter lysosomal pH and enzyme activity"
] | null |
fabry:30464119 | Long-Term Effects of Enzyme Replacement Therapy for Anderson-Fabry Disease. | [
"Anderson-Fabry disease is a rare X-linked lysosomal storage disease caused by α-galactosidase A (α-GalA) gene variants and characterized by a large genotypic and phenotypic spectrum. Enzyme replacement therapy (ERT) using recombinant α-GalA has been approved for > 10 years as a specific therapy for the disease. Ho... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"lysosomal storage disease"
] | [
"rare X-linked",
"α-galactosidase A (α-GalA) gene variants",
"heterozygote proband"
] | [
"large genotypic and phenotypic spectrum",
"cardiac manifestations",
"Left ventricular hypertrophy",
"myocardial dysfunction"
] | [
"Enzyme replacement therapy (ERT) using recombinant α-GalA",
"ERT",
"ERT continued for > 10 years"
] | null | null | [
"even under ERT"
] |
fabry:30374386 | [Acquired facial angiokeratoma]. | [
"Angiokeratomas are vascular dilations (telangiectasic papules) with keratotic surface caused by capillary dilation in the dermal papilla due to venous hyperpression, vascular malformation or a capillary fragility. They most commonly are benign and just unsightly and they may sometimes reveal a dreaded overload dis... | [
"<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",
"angiokeratoma",
"angiokeratoma"
] | null | [
"Angiokeratomas",
"vascular dilations (telangiectasic papules) with keratotic surface",
"capillary dilation in the dermal papilla",
"venous hyperpression",
"vascular malformation",
"capillary fragility",
"nontraumatic, nonpruritic, bleeding on contact, grouped cluster erythematous papules",
"on the le... | [
"Treatment based on electrocoagulation"
] | null | null | [
"benign",
"with no notable medical history",
"without extracutaneous manifestations",
"Kaposi syndrome",
"melanoma",
"carcinoma"
] |
fabry:30279886 | Limited effects of long-term enzyme replacement therapy on the cardiac conduction system in Fabry disease. | [
"The long-term effects of enzyme replacement therapy (ERT) on cardiac function and the conduction system in Fabry disease are not clearly understood. We report a case of a 48-year-old man with non-classical Fabry disease treated with ERT for 11 years. He was diagnosed with Fabry disease at age 27 years based on the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The long-term effects 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 enzyme replacement therapy (ERT)\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Fabry disease",
"non-classical Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"causal alpha-galactosidase A mutation (Val339Gln)"
] | [
"renal failure",
"cardiac dysfunction",
"Electrical conduction disturbances",
"complete atrioventricular block with atrial standstill",
"conduction disturbances progressed",
"arrhythmia",
"conduction disturbances"
] | [
"enzyme replacement therapy (ERT)",
"treated with ERT for 11 years",
"peritoneal dialysis",
"ERT",
"9 years of ERT",
"early initiation of ERT",
"long-term enzyme replacement therapy (ERT)",
"initiation of ERT"
] | null | [
"decreased alpha-galactosidase A activity in the peripheral leukocytes"
] | [
"despite the lack of progression of ventricular hypertrophy",
"Although he underwent permanent pacemaker implantation to prevent sudden cardiac death, the atrioventricular junctional rhythm remained, thereby lowering the ventricular pacing rate",
"effects of ERT are limited for inhibiting the progression of Fab... |
fabry:30268036 | Multiple sclerosis and fabry Disease, two sides of the coin? The case of an Italian family. | [
"Multiple Sclerosis (MS) is considered among possible differential diagnosis of Fabry Disease (FD), especially in early stages when findings are suggestive but not diagnostic for MS. We report the case of a family in which FD and MS coexist, offering an overview on clues for differential diagnosis and speculating o... | [
"<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 Multiple Sclerosis (MS)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Multiple Sclerosis (MS)",
"Fabry Disease (FD)",
"FD",
"FD",
"MS",
"FD",
"MS"
] | [
"positive to a new α-galactosidase A mutation, probably causative for FD classical variant"
] | null | [
"dialysis"
] | null | null | [
"not diagnostic for MS",
"meeting diagnostic criteria for MS",
"negative to any GLA gene mutation",
"neither clinical nor instrumental evidence of FD and MS"
] |
fabry:30234233 | [A case of Anderson-Fabry disease: a multidisciplinary approach for diagnosis and follow up]. | [
"Fabry disease (also known as Anderson-Fabry disease, angiocheratoma corporis diffusum, diffuse angiocheratoma) is a rare tesaurismosis linked to the deficiency of the lysosomal enzyme alpha-galactosidase A, required for the physiological catabolism of glycosphingolipids. The related clinical signs show a multisyst... | [
"<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",
"Anderson-Fabry disease",
"angiocheratoma corporis diffusum",
"diffuse angiocheratoma",
"rare tesaurismosis"
] | null | [
"multisystemic feature",
"degenerative and disabling pathology",
"irreparable organ damage"
] | [
"early begin the enzyme replacement therapy"
] | null | [
"deficiency of the lysosomal enzyme alpha-galactosidase A",
"physiological catabolism of glycosphingolipids"
] | null |
fabry:30211005 | Fabry disease. A potential pitfall A family with a novel intronic mutation. | [
"Fabry disease is a genetic disorder characterized by the accumulation of globotriaosylceramide in cell lysosomes resulting from an X-linked deficiency of α-galactosidase A activity. It presents with multiorgan manifestations, including progressive renal disease, cardiomyopathy and premature demise. Recently, its 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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease"
] | [
"genetic disorder",
"X-linked",
"homozygous",
"intronic alpha-galactosidase gene mutation"
] | [
"multiorgan manifestations",
"progressive renal disease",
"cardiomyopathy",
"premature demise",
"classic phenotype of the disease"
] | [
"hemodialysis (HD)",
"kidney transplant"
] | null | [
"deficiency of α-galactosidase A activity"
] | null |
fabry:30130681 | Generation of the human induced pluripotent stem cell line (UKWNLi001-A) from skin fibroblasts of a woman with Fabry disease carrying the X-chromosomal heterozygous c.708 G > C (W236C) missense mutation in exon 5 of the alpha-galactosidase-A gene. | [
"Human dermal fibroblasts (HDF) were isolated from the skin punch biopsy of a 25-year-old woman with Fabry disease (FD), carrying a heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene. HDF were reprogrammed to induced pluripotent stem cells (iPSC) using synthetic mRNA, preventing the altera... | [
"<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 Human dermal fibroblasts (HDF)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Fabry disease (FD)",
"FD"
] | [
"heterozygous c.708 G > C missense mutation in the alpha-galactosidase A gene",
"expressed all analyzed pluripotency-associated markers"
] | null | [
"synthetic mRNA"
] | null | null | [
"normal female karyotype"
] |
fabry:30023289 | An atypical p.N215S variant of Fabry disease with end-stage renal failure. | [
"Fabry disease is an X-linked metabolic disorder resulting in widespread deposition of Globotriaosylceramide within a variety of human tissues. The classical Fabry phenotype is one of early onset disease, with extensive tissue involvement resulting in acroparaesthesia, gastrointestinal disturbances, angiokeratoma, ... | [
"<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",
"Fabry"
] | [
"X-linked",
"GLA p.N215S mutation",
"p.N215S mutation",
"GLA p.N215S mutation"
] | [
"early onset disease",
"extensive tissue involvement",
"acroparaesthesia",
"gastrointestinal disturbances",
"angiokeratoma",
"renal failure",
"cardiovascular disease",
"late-onset disease confined to the myocardium",
"end-stage renal failure",
"hypertrophic cardiomyopathy",
"mild left ventricula... | [
"received a renal transplant"
] | null | [
"proteinuria"
] | [
"Despite Enzyme Replacement Therapy",
"no evidence of renal disease",
"remains clinically asymptomatic"
] |
fabry:29984754 | A Cardiac Variant of Fabry Disease Diagnosed with Chance Urinary Mulberry Cells. | [
"Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A and is classified into two types: classical and variant. The classical type exhibits classic manifestations, but the variant type does not and is therefore difficult to identify sometimes. A 73-year-old woman with 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",
"Fabry disease"
] | [
"X-linked"
] | [
"heart failure",
"left ventricular wall motion was mildly reduced without hypertrophy"
] | null | null | [
"deficiency of α-galactosidase A"
] | [
"without typical clinical findings"
] |
fabry:29954050 | Role of Handheld In Vivo Reflectance Confocal Microscopy for the Diagnosis of Fabry Disease: A Case Report. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme α-galactosidase that leads to a systemic accumulation of globotriaosylceramide. Handheld in vivo reflectance confocal microscopy (HH-RCM) is a useful modern technique in diagnosis and fol... | [
"<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",
"skin diseases",
"FD"
] | [
"rare X-linked"
] | null | [
"enzyme replacement therapy"
] | null | [
"deficient activity of the lysosomal enzyme α-galactosidase"
] | null |
fabry:29924222 | Genital angiokeratoma in a woman with Fabry disease: the dermatologist's role. | [
"Fabry disease is a rare lysosomal storage disorder, inherited in an X-linked manner. It is characterized by the deficiency of the enzyme alpha-galactosidase, leading to a buildup of glycosphingolipids in the cells. Angiokeratoma is one of the cutaneous manifestations of this condition, and it helps making the diag... | [
"<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 lysosomal storage disorder",
"Fabry disease",
"Fabry disease"
] | [
"inherited in an X-linked manner"
] | [
"Angiokeratoma",
"involves the genital area",
"lumbosacral, buttocks and trunk region",
"genital angiokeratoma",
"angiokeratoma"
] | null | null | [
"deficiency of the enzyme alpha-galactosidase"
] | null |
fabry:29911009 | Diagnostic Clues for the Diagnosis of Nonsarcomeric Hypertrophic Cardiomyopathy (Phenocopies): Amyloidosis, Fabry Disease, and Mitochondrial Disease. | [
"Hypertrophic cardiomyopathy (HCM) is the most common known inherited heart disorder, with a prevalence of 1:500 of the adult population. Etiology of HCM can be heterogeneous, with sarcomeric gene disease as the leading cause in up to 60% of the patients, and with a number of possible different diseases (phenocopie... | [
"<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 Hypertrophic cardiomyopathy (HCM)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Hypertrophic cardiomyopathy (HCM)",
"inherited heart disorder",
"HCM",
"sarcomeric gene disease",
"storage and infiltrative disorders",
"Fabry disease",
"amyloidosis",
"HCM",
"cardiomyopathies"
] | null | null | [
"early management and treatment"
] | null | null | null |
fabry:29867742 | Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age. | [
"A 16-year-old male presented with episodic headaches and a brain magnetic resonance imaging (MRI) that showed multifocal punctate to patchy white matter lesions. The diagnosis of Fabry disease (FD) was suggested upon the finding of significantly reduced plasma alpha-galactosidase A activity (0.62 µmol/L or 13% of ... | [
"<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-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease (FD)",
"FD",
"rare lysosomal storage disorder",
"FD",
"FD"
] | [
"presence of a hemizygous missense variant in the galactosidase alpha (GLA) gene (p.A143T)",
"variants in the GLA gene",
"p.A143T variant",
"causative p.A143T mutation"
] | [
"episodic headaches",
"multifocal punctate to patchy white matter lesions",
"systemic involvement",
"classical FD to healthy unaffected patients",
"multifocal white matter lesions on brain MRI",
"asymptomatic cerebral white matter lesions"
] | null | null | [
"significantly reduced plasma alpha-galactosidase A activity (0.62 µmol/L or 13% of normal; normal range ≥ 1.65 μmol/L)",
"discrete proteinuria"
] | null |
fabry:29792392 | Hemizygous Fabry disease associated with membranous nephropathy: A rare case report
. | [
"Fabry disease may coexist with various glomerular diseases, including IgA nephropathy, focal segmental glomerulosclerosis, etc. In this study, we report a rare case of Fabry disease associated with membranous nephropathy (MN).",
"A 30-year-old man with nephrotic proteinuria, normal renal function, and no other e... | [
"<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",
"glomerular diseases",
"IgA nephropathy",
"focal segmental glomerulosclerosis",
"Fabry disease associated with membranous nephropathy (MN)",
"MN (stage 1)",
"Fabry disease",
"Fabry disease",
"rare coexistence with MN"
] | [
"base deletion in exon 7 of the GLA gene (GLA-E07.1286_*7 del, a newly reported mutation)"
] | null | null | null | [
"nephrotic proteinuria",
"low-activity α-galactosidase A (α-Gal A, GLA)"
] | [
"normal renal function",
"no other extrarenal manifestations"
] |
fabry:29755794 | Time of Anderson-Fabry Disease Detection and Cardiovascular Presentation. | [
"Anderson-Fabry disease is an X-linked inherited disease, which manifests in a different manner depending on gender and genotype. Making a working diagnosis of Anderson-Fabry disease is difficult because of several reasons: (a) that it is a multiorgan disease with wide variety of phenotypes, (b) different timelines... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"multiorgan disease",
"Anderson-Fabry disease"
] | [
"X-linked inherited disease",
"heterozygote",
"hemizygote",
"heterozygote",
"heterozygote"
] | [
"Late-onset/cardiac type of presentation",
"minimal involvement of other organs",
"cardiac manifestations",
"significant left and mild right ventricular hypertrophy",
"left ventricular hypertrophy",
"myocardial infarction",
"degenerative medium degree aortic valve stenosis",
"thickened mitral papillar... | [
"implanted cardiac pacemaker",
"performed percutaneous coronary intervention",
"heart surgery (mitral valve annuloplasty and plastic repair of the tricuspid valve)"
] | null | null | [
"asymptomatic"
] |
fabry:29675125 | [Fabry disease: about an uncommon case]. | [
"We here report the case of a 60-year old patient with congestive heart failure due to Fabry disease-related cardiopathy. This study has offered the opportunity to perform a literature review on cardiopathy related to this disease as well as to highlight the features of cardiac manifestation in Fabry disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We here 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 60-year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Fabry disease-related cardiopathy",
"cardiopathy",
"Fabry disease"
] | null | [
"congestive heart failure",
"cardiac manifestation"
] | null | null | null | null |
fabry:29510679 | Case report: lipid inclusion in glomerular endothelial and mesangial cells in a patient after contrast medium injection. | [
"It is well-recognized that injection of iodinated radiographic contrast media (CM) sometimes causes acute renal injury via multiple mechanisms, such as vasoconstriction, toxicity on glomerular endothelium and tubular epithelium and so forth.",
"A 51-year-old man developed acute renal injury with proteinuria afte... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It is well-recognized 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 injection of iodinated radiographic contrast media (CM)\n <span style=\"font-si... | [
"CM"
] | null | [
"acute renal injury",
"multiple mechanisms",
"vasoconstriction",
"toxicity on glomerular endothelium and tubular epithelium",
"acute renal injury",
"renal function partially recovered",
"renal impairment",
"decrease side effects of CM"
] | [
"CM administration",
"statin",
"statin"
] | null | [
"proteinuria",
"reduced proteinuria",
"dysregulated transportation of lipid"
] | [
"didn't has any clinic clues of Fabry disease and other lysosomal storage disorders"
] |
fabry:29488049 | Mulberries in the urine: a tell-tale sign of Fabry disease. | [
"Fabry disease is a treatable progressive illness of inborn error causing eventual multiple organ dysfunction in advanced untreated cases. We report on a classic Fabry child patient presenting with urinary mulberry cells and bodies without renal involvement. This report emphasizes the usefulness of urinary microsco... | [
"<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",
"treatable progressive illness of inborn error",
"Fabry",
"Fabry disease"
] | null | [
"eventual multiple organ dysfunction"
] | null | null | null | [
"without renal involvement"
] |
fabry:29460476 | Chloroquine-induced cardiomyopathy: a reversible cause of heart failure. | [
"Chloroquine (CQ) and hydroxychloroquine (HCQ) are anti-rheumatic medications frequently used in the treatment of connective tissue disorders. We present the case of a 45-year-old woman with CQ-induced cardiomyopathy leading to severe heart failure. Electrocardiographic abnormalities included bifascicular block, wh... | [
"<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 Chloroquine (CQ)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"connective tissue disorders",
"CQ-induced cardiomyopathy",
"CQ/HCQ-induced cardiomyopathy",
"CQ/HCQ cardiomyopathy",
"phenocopy of Fabry disease"
] | [
"α-galactosidase A polymorphism"
] | [
"severe heart failure",
"Electrocardiographic abnormalities",
"bifascicular block",
"severe biventricular and biatrial hypertrophy",
"dramatic improvement in symptoms and structural heart disease",
"Cardiac toxicity",
"adverse effect of CQ/HCQ",
"cardiomyopathy",
"concentric hypertrophy",
"conduct... | [
"Chloroquine (CQ)",
"hydroxychloroquine (HCQ)",
"anti-rheumatic medications",
"cessation of CQ"
] | null | null | null |
fabry:29277579 | IgG4-related disease with possible myocardial involvement. | [
"IgG4-related disease is characterized by mass lesions, a dense lymphoplasmacytic infiltrate with immunohistochemical positivity for IgG4, storiform fibrosis and, frequently, elevated serum IgG4 levels. It can be multisystemic; however, myocardial involvement, which is objectively determined by imaging tests, has n... | [
"<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 IgG4-related disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"IgG4-related disease",
"multisystemic",
"IgG4-related disease",
"sarcoidosis",
"Fabry disease"
] | null | [
"mass lesions",
"myocardial involvement",
"possible myocardial involvement"
] | null | null | [
"elevated serum IgG4 levels"
] | null |
fabry:29098097 | Early Renal Involvement in a Girl with Classic Fabry Disease. | [
"Fabry disease is an X-linked lysosomal storage disorder resulting from the deficiency or absence of the enzyme alpha galactosidase A; this defect leads to the systemic accumulation of globotriaosylceramide and its metabolites. Organic involvement in men is well known, but in women it is controversial, mainly due 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 Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Nephropathy",
"Fabry disease",
"classic Fabry disease"
] | [
"X-linked",
"random X-chromosome inactivation in each of their cells (Lyon hypothesis",
"heterozygotes"
] | [
"Organic involvement",
"multisystemic",
"severe compromise",
"acroparesthesia in hands and feet",
"gastrointestinal symptoms",
"angiokeratomas",
"dyshidrosis",
"hearing loss",
"arrhythmias",
"hypertrophic cardiomyopathy",
"cerebrovascular accidents",
"renal failure",
"Glomerular and vascular... | null | null | [
"deficiency or absence of the enzyme alpha galactosidase A",
"overt proteinuria",
"decreased glomerular filtration rate"
] | null |
fabry:29044343 | Case report: is low α-Gal enzyme activity sufficient to establish the diagnosis of Fabry disease? | [
"Fabry disease is an X-linked lysosomal storage disease due to alpha-galactosidase A (α-Gal A) deficient activity which leads to the accumulation of glucoesphingolipids, such as globotriaosilceramide. There are over 700 known mutations of the enzyme gene, and most of them cause Fabry Disease. This case report descr... | [
"<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",
"Fabry Disease"
] | [
"X-linked",
"mutations of the enzyme gene",
"D313Y is an alpha-galactosidase A sequence variant"
] | [
"clinical symptoms"
] | [
"hemodialysis"
] | null | [
"alpha-galactosidase A (α-Gal A) deficient activity",
"pseudo deficient enzyme activity in plasma"
] | [
"not Fabry disease",
"could not be attributable to Fabry disease",
"enzyme replacement therapy was not indicated"
] |
fabry:28975091 | Fabry disease; early diagnosis improves prognosis but diagnosis is often delayed. | [
"Fabry disease (FD) is a rare X-linked deficiency of lysosomal enzyme alpha-galactosidase (AGAL) resulting in accumulation of globotriaosylceramide (Gb-3) in the cells, with protean manifestations. Major organs affected are the kidneys, heart and nervous system. The diagnosis of FD is often delayed by many years. E... | [
"<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",
"FD"
] | [
"rare X-linked"
] | [
"protean manifestations",
"Major organs affected are the kidneys, heart and nervous system",
"reverse the organ damage",
"involvement of different organs"
] | [
"Enzyme replacement started early",
"delayed initiation"
] | null | [
"deficiency of lysosomal enzyme alpha-galactosidase (AGAL)"
] | null |
fabry:28943383 | Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy. | [
"Fabry disease is an X-linked lysosomal storage disorder caused by the deficient activity of α-galactosidase A due to mutations in the GLA gene, which may be associated with increased left ventricular wall thickness and mimic the morphologic features of hypertrophic cardiomyopathy. Management strategies for these 2... | [
"<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",
"hypertrophic cardiomyopathy",
"hypertrophic cardiomyopathy",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"mutations in the GLA gene",
"mutations in the GLA gene",
"GLA mutation encoding P.N215S",
"later-onset",
"heterozygotes"
] | [
"increased left ventricular wall thickness",
"mimic the morphologic features of hypertrophic cardiomyopathy",
"mild cardiac phenotype",
"symmetric distribution of left ventricular hypertrophy"
] | [
"-specific treatment",
"recombinant α-galactosidase A enzyme replacement therapy",
"enzyme replacement therapy",
"monitoring",
"enzyme replacement therapy"
] | null | [
"deficient activity of α-galactosidase A",
"low α-galactosidase A activity in dried blood spots",
"low α-galactosidase A activity levels"
] | [
"without a definitive etiology for left ventriclar hypertrophy"
] |
fabry:28936893 | Severe hypertrophic cardiomyopathy in a patient with atypical Anderson-Fabry disease. | [
"Anderson-Fabry disease (AFD) is a hereditary disorder caused by a deficiency in the lysosomal enzyme α-galactosidase A which causes dysfunctions in multiple organ systems. Cardiac manifestation includes left ventricular hypertrophy, thickening of the valves, conduction disturbances and in the late phase, extensive... | [
"<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)",
"AFD",
"AFD",
"advanced cardiac disease"
] | [
"hereditary disorder"
] | [
"dysfunctions in multiple organ systems",
"Cardiac manifestation",
"left ventricular hypertrophy",
"thickening of the valves",
"conduction disturbances",
"extensive areas of myocardial fibrosis",
"sudden cardiac death",
"exclusive cardiac involvement",
"life-threatening arrhythmic events",
"sudden... | [
"implantation of an implantable cardioverter defibrillator",
"implantable cardioverter defibrillator"
] | null | [
"deficiency in the lysosomal enzyme α-galactosidase A"
] | null |
fabry:28902648 | [Fabry disease: An overlooked diagnosis in adult cardiac patients]. | [
"Fabry disease is a rare, X-linked, lysosomal glycosphingolipid storage disorder. A deficiency of the enzyme alpha-galactosidase results in intracellular accumulation of globotriaosylceramide in multiple cell types, such as those of the nerves, kidneys, cardiac, and cutaneous tissues, leading to a multisystem disea... | [
"<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 glycosphingolipid storage disorder",
"multisystem disease",
"Fabry disease"
] | [
"rare, X-linked",
"heterozygous"
] | [
"Cardiac involvement",
"left ventricular hypertrophy",
"conduction abnormalities",
"arrhythmias",
"valvular abnormalities",
"heart failure",
"affects only cardiac tissue",
"unexplained ventricular hypertrophy",
"cardiac involvement",
"irreversible tissue damage"
] | [
"enzyme replacement therapy"
] | null | [
"deficiency of the enzyme alpha-galactosidase"
] | null |
fabry:28848191 | Bedside Stereomicroscopy of Fabry Kidney Biopsies: An Easily Available Method for Diagnosis and Assessment of Sphingolipid Deposits. | [
"A previous case report found stereomicroscopic changes typical for Fabry disease in a kidney biopsy. This case series evaluates an expanded diagnostic capacity of the method.",
"Bedside stereomicroscopy was performed in a cross-sectional prospective study of 31 consecutive enzyme-treated or treatment-naïve male ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A previous case report found \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n stereomicroscopic changes typical for Fabry disease\n <span style=\"font-size... | [
"Fabry disease",
"Fabry disease"
] | null | [
"stereomicroscopic changes typical for Fabry disease",
"absence of sphingolipid deposits in the biopsy"
] | [
"enzyme-treated or treatment-naïve",
"identical agalsidase therapy",
"enzyme replacement therapy"
] | null | [
"amount of podocyte globotriaosylceramide (Gb3) deposits",
"variability of podocyte Gb3 accumulation",
"tubular cell deposits"
] | [
"genetic variant of unknown significance",
"the diagnosis of Fabry disease was finally discarded"
] |
fabry:28799081 | The Psychosocial Impact of Carrying a Debated Variant in the GLA Gene. | [
"The clinical significance of the c.427G>A (p.A143T) variant in GLA is a topic of debate within the lysosomal storage disease community. A review of the literature and published case reports found the clinical impact of the variant to range from classic Fabry symptoms to healthy unaffected males with normal alpha- ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The clinical significance of 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 c.427G>A (p.A143T) variant in GLA\n <span style=\"font-size: 0.8em; fo... | [
"lysosomal storage disease",
"Fabry disease"
] | [
"c.427G>A (p.A143T) variant in GLA",
"p.A143T variant",
"p.A143T variant"
] | [
"classic Fabry symptoms"
] | null | null | null | [
"normal alpha- galactosidase enzyme levels"
] |
fabry:28649509 | Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other r... | [
"<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",
"rare metabolic disorders",
"malignancies",
"meningioma",
"Fabry disease",
"Fabry-associated cancer",
"lysosomal storage disorders",
"malignancy"
] | [
"X-linked",
"loss of function mutations in the GLA gene at Xq22"
] | null | [
"surgical excision of their tumor"
] | null | [
"functional deficiency of alpha-galactosidase A"
] | null |
fabry:28596512 | Paricalcitol as an Antiproteinuric Agent Can Result in the Deterioration of Renal and Heart Function in a Patient with Fabry Disease. | [
"BACKGROUND Fabry disease is a rare and progressive X-linked inherited disorder of glycosphingolipid metabolism that is due to deficient or absent lysosomal a-galactosidase A activity. Among its other associated signs and symptoms, patients present with renal failure and proteinuria, which are markers of disease pr... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Fabry disease",
"disorder of glycosphingolipid metabolism",
"Fabry disease"
] | [
"rare and progressive X-linked inherited"
] | [
"renal failure",
"chronic renal failure",
"transient worsening of cardiac and renal function",
"possible serious adverse effects associated with the use of high doses of this drug"
] | [
"Renin-angiotensin-aldosterone system (RAAS) blockers",
"paricalcitol",
"high dose of paricalcitol as an antiproteinuric agent",
"paricalcitol as an antiproteinuric agent"
] | null | [
"deficient or absent lysosomal a-galactosidase A activity",
"proteinuria",
"proteinuria",
"proteinuria"
] | [
"unsatisfactory double-RAAS blockage"
] |
fabry:28576916 | Fabry heterozygote mimicking multiple sclerosis. | [
"Fabry's disease (FD) is a recognised mimic of multiple sclerosis (MS). It is an X-linked storage lysosomal disorder with deficiency of α-galactosidase A and enzyme replacement therapy is available. Patients with FD may satisfy modified McDonald criteria if the diagnosis of FD has not been pursued. We present a cas... | [
"<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 (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"multiple sclerosis (MS)",
"storage lysosomal disorder",
"FD",
"FD",
"FD",
"FD",
"atypical MS",
"FD"
] | [
"X-linked",
"missense mutation at p.R342Q in the galactodisdase alpha (GLA) gene"
] | [
"recurrent posterior circulation stroke-like symptoms",
"hearing loss",
"acroparaesthesia",
"typical radiological features of MS on MRI brain",
"ischaemic stroke",
"infiltrative cardiomyopathy",
"chronic renal failure"
] | [
"enzyme replacement therapy"
] | null | [
"deficiency of α-galactosidase A"
] | [
"masquerading as benign MS for 40 years",
"unnecessary immunosuppression",
"inappropriate disease counselling",
"missed treatment opportunity"
] |
fabry:28499424 | Ultrastructural deposits appearing as "zebra bodies" in renal biopsy: Fabry disease?- comparative case reports. | [
"Fabry Disease (FD) is a genetic disorder caused by alpha-galactosidase A deficiency. Certain drugs, such as hydroxychloroquine, can produce renal deposits that mimic morphological findings seen in FD, characterizing a type of drug-induced renal phospholipidosis.",
"Case 1: A 28-year-old female patient with syste... | [
"<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)",
"drug-induced renal phospholipidosis",
"systemic lupus erythematosus",
"hydroxychloroquine-induced renal phospholipidosis",
"Fabry Disease",
"Drug-induced renal phospholipidosis"
] | [
"genetic disorder",
"M284 T mutation in exon 6"
] | [
"acroparesthesia",
"angiokeratomas",
"cornea verticillata"
] | [
"hydroxychloroquine",
"using hydroxychloroquine for 14 months"
] | null | [
"alpha-galactosidase A deficiency",
"subnephrotic proteinuria",
"subnephrotic proteinuria",
"evaluation of alpha-galactosidase A showed no activity in both blood and leukocytes"
] | [
"Neither activity analysis of alpha-galactosidase A nor genetic analysis were available and were not performed",
"deposits were not detected in a subsequent renal biopsy three years after withdrawal of the medication"
] |
fabry:28497441 | [Cryptogenic stroke in a young patient with heart disease and kidney failure]. | [
"Fabry's disease is an infrequent metabolic pathology linked to the X chromosome which causes a wide variety of signs and symptoms.",
"A 39-year-old male who was admitted to our stroke unit with right-side hemiparesis (1 + 0) and dysarthria (1). The score on the National Institute of Health Stroke Scale was 2. Th... | [
"<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's disease",
"Fabry's disease",
"heart disease"
] | [
"infrequent metabolic pathology linked to the X chromosome",
"presence of a mutation in the GLA gene"
] | [
"right-side hemiparesis (1 + 0)",
"dysarthria (1)",
"score on the National Institute of Health Stroke Scale was 2",
"angiokeratomas in both thighs",
"left thalamic acute infarction",
"generalised increase in the pulsatility indices",
"left ventricular hypertrophy",
"left atrial dilatation",
"paroxys... | [
"stroke unit",
"with antiaggregating medication",
"treatment with agalsidase beta.",
"Hormone replacement therapy"
] | null | [
"urine analysis",
"Activity of the enzyme alpha-galactosidase A was diminished"
] | [
"duplex scan of the supra-aortic trunks was normal",
"asymptomatic"
] |
fabry:28496025 | Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype. | [
"Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although hundreds of mutations in the GLA gene have been described, many of them are variants of unknown significance. Here we report a novel GLA mutation, p.Ile239... | [
"<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"
] | [
"X-linked inherited",
"mutations in the GLA gene",
"GLA gene",
"novel GLA mutation, p.Ile239Met",
"mutation in the GLA gene",
"previously unreported heterozygous mutation in exon 5 of the GLA gene (c.717A>G; p.Ile239Met)",
"p.Ile239Met GLA mutation",
"p. Ile239Met GLA mutation"
] | [
"renal failure",
"hypertrophic cardiomyopathy",
"2nd degree AV block",
"cardiac phenotype of hypertrophic cardiomyopathy",
"left ventricular hypertrophy",
"hypertrophic cardiomyopathy",
"left ventricular hypertrophy",
"predominant cardiac phenotype"
] | null | [
"Hungarian"
] | [
"elevated lyso-Gb3 levels",
"Lyso-Gb3 levels were elevated in all carrier family members (range: 2.4-13.8 ng/mL; upper limit of normal +2STD: ≤ 1.8 ng/mL)",
"The GLA enzyme level was markedly reduced in the affected male family member (< 0.2 µmol/L/hour; upper limit of normal ± 2STD: ≥ 2.6 µmol/L/hour)"
] | null |
fabry:28381753 | The Coexistence of Multiple Myeloma-associated Amyloid Light-chain Amyloidosis and Fabry Disease in a Hemodialysis Patient. | [
"Fabry disease (FD) is an inherited lysosomal disorder caused by an X-linked α-galactosidase A deficiency. We report the case of a 50-year-old male FD patient on hemodialysis who presented with macroglossia-related speaking difficulty and gastrointestinal symptoms. An endoscopic analysis revealed multiple gastric u... | [
"<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",
"amyloid light-chain amyloidosis",
"multiple myeloma (MM)"
] | [
"inherited lysosomal disorder",
"X-linked"
] | [
"macroglossia-related speaking difficulty",
"gastrointestinal symptoms",
"multiple gastric ulcers",
"potential pathogenic relationship between FD and MM",
"similar gastrointestinal manifestations"
] | [
"hemodialysis",
"bortezomib and dexamethasone"
] | null | [
"α-galactosidase A deficiency"
] | null |
fabry:28377888 | Chronic intestinal pseudo-obstruction. Did you search for lysosomal storage diseases? | [
"Chronic intestinal pseudo-obstruction results in clinical manifestations that resemble intestinal obstruction but in the absence of any physical obstructive process. Fabry disease is an X-linked lysosomal storage disease characterized by the dysfunction of multiple systems, including significant gastrointestinal 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 Chronic intestinal pseudo-obstruction\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease",
"Fabry disease",
"FD",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"Chronic intestinal pseudo-obstruction",
"intestinal obstruction",
"dysfunction of multiple systems",
"significant gastrointestinal involvement",
"chronic intestinal pseudo-obstruction",
"gastrointestinal symptoms",
"colonic dysmotility",
"pseudo-obstruction syndrome, simulating intestinal necrosis",
... | [
"colostomy",
"Early treatment with enzyme replacement therapy",
"enzyme replacement therapy"
] | null | null | [
"absence of any physical obstructive process",
"without cardiac, renal or cerebrovascular compromise",
"asymptomatic",
"non-specific nature of the gastrointestinal symptoms"
] |
fabry:28351893 | Case study on the pathophysiology of Fabry disease: abnormalities of cellular membranes can be reversed by substrate reduction in vitro. | [
"It is still not entirely clear how α-galactosidase A (GAA) deficiency translates into clinical symptoms of Fabry disease (FD). The present communication investigates the effects of the mutation N215S in FD on the trafficking and processing of lysosomal GAA and their potential association with alterations in the me... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It is still not entirely clear how \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 A (GAA) deficiency\n <span style=\"font-size: 0.8em; fo... | [
"Fabry disease (FD)",
"FD",
"FD",
"Morbus Fabry"
] | [
"mutation N215S"
] | [
"reversing these abnormalities"
] | [
"Substrate reduction with N-butyldeoxynojirimycin (NB-DNJ) in vitro",
"substrate reduction therapy with NB-DNJ"
] | null | [
"α-galactosidase A (GAA) deficiency",
"processing of lysosomal GAA",
"GAA deficiency"
] | null |
fabry:28329906 | [The Fabry's Disease Cardiomyopathy as Differential Diagnosis of Acute Coronary Syndrome]. | [
"The progressive cardiomyopathy in patients with Fabry disease is often accompanied by angina pectoris and elevated levels of high-sensitive troponin T (hs-TnT), potentially mimicking acute coronary syndrome. Here, we present to representative cases with focus on clinical, diagnostic and therapeutic settings. An ov... | [
"<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 progressive cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"progressive cardiomyopathy",
"Fabry disease",
"cardiomyopathy associated with Fabry disease",
"acute coronary syndrome",
"Fabry cardiomyopathy",
"Fabry cardiomyopathy",
"acute coronary syndrome"
] | null | [
"angina pectoris",
"acute coronary syndrome",
"similar clinical and biochemical constellations as seen in acute coronary syndrome",
"left ventricular hypertrophy of unknown origin"
] | null | null | [
"elevated levels of high-sensitive troponin T (hs-TnT)"
] | null |
fabry:28324326 | The Impact of Fabry Disease on Reproductive Fitness. | [
"Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and incre... | [
"<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 lysosomal storage disorder",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD",
"FD"
] | [
"pan-ethnic",
"X-linked",
"pathogenic mutations in the GLA gene"
] | [
"decreased reproductive fitness",
"reproductive fitness",
"reduced reproductive fitness",
"depression",
"pain"
] | [
"reproductive genetic counseling",
"biological live-born children",
"assisted reproductive technology",
"reproductive choice",
"more biological live-born children",
"biological children fathered",
"more biological children",
"reproductive genetic counseling and treatment"
] | [
"Canada"
] | [
"reduced sperm count",
"oligospermia"
] | [
"difficulty impregnating their partners",
"reduced reproductive fitness"
] |
fabry:28281207 | Cilioretinal artery occlusion and anterior ischemic optic neuropathy as the initial presentation in a child female carrier of Fabry disease. | [
"To report the youngest female carrier of Fabry disease, complicated by cilioretinal artery occlusion and anterior ischemic optic neuropathy (AION).",
"Case report.",
"An 11-year-old girl was referred to our clinic with painless, acute loss of vision in her right eye. Posterior segment examination and fluoresce... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the youngest \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"cilioretinal artery occlusion",
"anterior ischemic optic neuropathy (AION)",
"painless, acute loss of vision in her right eye",
"cilioretinal artery occlusion",
"AION",
"Retinal vascular occlusions",
"retinal vascular occlusion",
"cilioretinal artery occlusion",
"AION"
] | null | null | [
"low blood α-galactosidase A enzyme level of 242.27 pmol/spot*20 h (reference range: 450-2000 pmol/spot*20 h)"
] | [
"Systemic evaluations were unremarkable"
] |
fabry:28276057 | The mutation p.D313Y is associated with organ manifestation in Fabry disease. | [
"Fabry disease (FD) is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, and ophthalmological), genetic, and biochemical (lyso-globotriaosylsph... | [
"<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)",
"multisystem lysosomal storage disorder"
] | [
"mutations in the GLA gene",
"mutation p.D313Y",
"p.D313Y mutation",
"mutation p.D313Y in the GLA gene",
"p.D313Y mutation"
] | [
"Symptoms and organ manifestations compatible with FD",
"Cerebrovascular events",
"pain",
"acroparaesthesia",
"Cornea verticillata",
"mild retinal vascular tortuosity",
"cerebrovascular involvement",
"organ manifestations",
"Neurological symptoms (stroke and pain)",
"ocular manifestations"
] | [
"Enzyme replacement therapy"
] | null | [
"Lyso-Gb3 was elevated",
"elevation of the Fabry-specific biomarker lyso-Gb3"
] | [
"Classical cardiac, renal or skin manifestations could not be identified"
] |
fabry:28178158 | Life-threatening bleeding from gastric mucosal angiokeratomas during anticoagulation: A case report of Fabry disease. | [
"Angiokeratomas are the earliest manifestation of Fabry disease (FD), and the extent of their appearance is related to disease severity. Angiokeratomas are mostly found on cutaneous regions.",
"Here we report an FD patient with widespread gastrointestinal angiokeratomas who developed life-threatening bleeding fol... | [
"<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 (FD)",
"FD",
"FD"
] | null | [
"Angiokeratomas",
"Angiokeratomas",
"on cutaneous regions",
"widespread gastrointestinal angiokeratomas",
"life-threatening bleeding",
"gastrointestinal bleeding",
"extensive cutaneous angiokeratomas",
"gastrointestinal angiokeratomas"
] | [
"anticoagulation for atrial fibrillation",
"anticoagulation"
] | null | null | null |
fabry:28157751 | Inherited and Uncommon Causes of Stroke. | [
"This article is a practical guide to identifying uncommon causes of stroke and offers guidance for evaluation and management, even when large controlled trials are lacking in these rarer forms of stroke.",
"Fabry disease causes early-onset stroke, particularly of the vertebrobasilar system; enzyme replacement th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This article is a practical guide to identifying uncommon causes 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 stroke\n <span style=\"font-size: 0.8e... | [
"Fabry disease",
"Cerebral autosomal dominant arteriopathy",
"leukoencephalopathy",
"CADASIL)",
"multiple sclerosis",
"Moyamoya disease",
"Cerebral amyloid angiopathy",
"preeclampsia",
"eclampsia"
] | null | [
"stroke",
"stroke",
"early-onset stroke, particularly of the vertebrobasilar system",
"subcortical infarcts",
"migraines",
"early-onset lacunar strokes",
"dementia",
"ischemic or hemorrhagic stroke",
"microhemorrhages and macrohemorrhages",
"typical stroke symptoms",
"progressive dementia",
"i... | [
"enzyme replacement therapy",
"revascularization",
"IV recombinant tissue plasminogen activator",
"family counseling"
] | null | null | null |
fabry:28152533 | Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease. | [
"We report on the clinical, biochemical, and genetic findings of a large family with the classical phenotype of Fabry disease due to the novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme. This report highlights that (i) Fabry disease diagnosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on the clinical, biochemical, and genetic findings of a large family with the classical 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",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"novel nonsense mutation c.607G>T (p.E203X) of the GLA gene, which occurs in the active site of the α-galactosidase A enzyme",
"heterozygote females"
] | [
"unexplained left ventricular hypertrophy (LVH)",
"unexplained LVH",
"LVH"
] | null | null | null | null |
fabry:28100976 | Ventricular Tachycardia in Fabry Disease Detected in a 50-Year-Old Woman during 14-Day Continuous Cardiac Monitoring. | [
"Fabry disease is an X-linked lysosomal storage disorder. Female carriers were long thought to be asymptomatic; however, research has revealed the opposite. Cardiac conditions are the chief causes of death in women with Fabry disease. Although ventricular tachycardia has been reported in male patients with Fabry di... | [
"<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",
"Fabry disease",
"Fabry disease"
] | [
"X-linked"
] | [
"Cardiac conditions",
"death",
"ventricular tachycardia",
"nonsustained ventricular tachycardia",
"relieved the patient's symptoms"
] | [
"permanent implantable cardioverter-defibrillator"
] | null | null | [
"asymptomatic",
"failed to detect the arrhythmia"
] |
fabry:28090261 | Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation. | [
"A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-... | [
"<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 71-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease"
] | [
"heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]"
] | [
"nonobstructive hypertrophic cardiomyopathy",
"dyspnea",
"severe edema on both legs"
] | [
"cardiac surgery",
"tricuspid annuloplasty",
"Maze operation",
"right atrial reduction plasty",
"cardiac surgery"
] | null | [
"plasma α-galactosidase activity",
"around lower normal limit"
] | null |
fabry:28087245 | The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome. | [
"Heterozygous Fabry females usually have an attenuated form of Fabry disease, causing them to be symptomatic; however, in rare cases, they can present with a severe phenotype. In this study, we report on a 37-year-old woman with acroparesthesia, a dysmorphic face, left ventricular hypertrophy, and intellectual disa... | [
"<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 Heterozygous\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry",
"attenuated form of Fabry disease"
] | [
"Heterozygous",
"10q26 terminal deletion",
"non-mutated allele in the GLA gene was methylated"
] | [
"acroparesthesia",
"dysmorphic face",
"left ventricular hypertrophy",
"intellectual disability"
] | null | null | [
"very low α-galactosidase A (α-gal A) activity in dried blood spot (DBS), lymphocytes, and skin fibroblasts",
"massive excretion of Gb3 and Gb2 in urine and lyso-Gb3 in DBS and plasma"
] | null |
fabry:28079663 | General Anesthesia and Fabry Disease: A Case Report. | [
"Fabry disease is an inherited X-linked disorder characterized by the absence (in men) or deficiency (in women) in α-galactosidase A activity that causes a progressive accumulation of glycosphingolipids within lysosomes of cells of all the major organ systems. The subsequent organ damage that manifests in childhood... | [
"<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"
] | [
"inherited X-linked disorder"
] | [
"organ damage",
"pain",
"hypertension",
"cardiac",
"renal, nervous system",
"lung dysfunction"
] | [
"general anesthesia",
"gynecological",
"trauma surgery"
] | null | [
"absence",
"deficiency",
"in α-galactosidase A activity"
] | null |
fabry:27974158 | Clinicopathological Features of Cardiac Glycolipid Storage Disease in an Adult Pug. | [
"A 12-year-old neutered male pug suffered cardiac arrest and died under general anaesthesia during diagnostic imaging for evaluation of exercise intolerance and respiratory crisis. Histopathological evaluation revealed two types of storage material, glycolipid and lipopigment, having differential distributions in m... | [
"<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 12-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"lysosomal storage disease (LSD)",
"glycolipid storage disease",
"Anderson-Fabry (Fabry) disease",
"Fabry disease",
"LSD"
] | null | [
"cardiac arrest",
"died",
"exercise intolerance",
"respiratory crisis",
"The heart was most strikingly affected",
"other less affected tissues included the liver, brain, kidneys and skin",
"Cardiomyocytes were swollen",
"extensive sarcoplasmic vacuolation",
"coalescing areas of myocardial fibrosis",... | [
"under general anaesthesia"
] | [
"pug"
] | [
"loss of α-galactosidase A function"
] | null |
fabry:27904112 | A Renal Variant of Fabry Disease Diagnosed by the Presence of Urinary Mulberry Cells. | [
"Fabry disease is a lysosomal storage disorder caused by a deficiency of α-galactosidase A. This disease is classified into two types, namely a classical and variant type. We herein present the case of a 36-year-old man who showed a renal variant of Fabry disease and was diagnosed at an early stage by the presence ... | [
"<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",
"renal variant of Fabry disease",
"Fabry disease",
"renal variant of Fabry disease"
] | null | null | null | null | [
"proteinuria",
"low level of α-galactosidase A activity"
] | [
"no history of general symptoms"
] |
fabry:27899143 | Presymptomatic diagnosis of Fabry's disease: a case report. | [
"Fabry's disease is a rare X-linked genetic disorder characterized by reduced levels of the α-galactosidase A enzyme. It may present with a cardiac phenotype resembling hypertrophic cardiomyopathy. However, as a specific enzyme replacement therapy is available, it remains an important differential diagnoses in pati... | [
"<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's disease",
"inheritable cardiomyopathies"
] | [
"rare X-linked genetic disorder",
"random inactivation of the X chromosome in different organs"
] | [
"cardiac phenotype resembling hypertrophic cardiomyopathy",
"cardiac hypertrophy",
"neuropathic pain",
"reduced sweat production",
"gastrointestinal symptoms",
"cardiac, renal, and central nervous systems",
"late-onset cardiac conduction disease",
"heart failure"
] | [
"enzyme replacement therapy"
] | [
"Caucasian"
] | [
"reduced levels of the α-galactosidase A enzyme"
] | [
"asymptomatic"
] |
fabry:27776503 | Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report. | [
"Fabry disease is a rare X-linked lysosomal storage disorder caused by α-galactosidase A deficiency. With the advancement of molecular diagnostic tools, more disease-causing mutations in α-galactosidase A (GLA) have been identified in Fabry disease. We found a novel mutation in a Korean family with predominant rena... | [
"<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 of unknown cause"
] | [
"rare X-linked",
"disease-causing mutations in α-galactosidase A (GLA)",
"novel mutation",
"novel GLA gene mutation, c.263A > G (p.Tyr88Cys)",
"novel GLA mutation, c.263A > G (p.Tyr88Cys)"
] | [
"predominant renal manifestations of the disease",
"renal failure"
] | [
"donate a kidney to"
] | [
"Korean",
"Korean"
] | [
"α-galactosidase A deficiency",
"proteinuria",
"decreased α-galactosidase A activity"
] | null |
fabry:27613494 | Differential diagnosis of left ventricular hypertrophy: usefulness of multimodality imaging and tissue characterization with cardiac magnetic resonance. | [
"Differential diagnosis of asymmetrical left ventricular hypertrophy may be challenging, particularly in patients with history of hypertension. A middle-aged man underwent an echocardiographic examination during workup for hypertension, which unexpectedly showed significant asymmetrical septal hypertrophy and raise... | [
"<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 Differential diagnosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"hypertension",
"hypertrophic cardiomyopathy",
"Anderson-Fabry disease"
] | null | [
"asymmetrical left ventricular hypertrophy",
"hypertension",
"significant asymmetrical septal hypertrophy",
"asymmetrical hypertrophy",
"low native myocardial T1 value",
"left ventricular hypertrophy"
] | null | null | [
"very low alpha galactosidase enzyme levels"
] | [
"No myocardial late gadolinium contrast enhancement was seen"
] |
fabry:27593536 | Novel α-Galactosidase A Mutation (K391E) in a Young Woman With Severe Cardiac and Renal Manifestations of Fabry Disease. | [
"Fabry disease, an X-linked lysosomal storage disorder due to α-galactosidase A deficiency, is associated with dysfunction of various cell types and results in a systemic vasculopathy. We describe a 29-year-old woman with Fabry disease presenting with severe cardiac and renal manifestations. Gene analysis demonstra... | [
"<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",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"novel mutation (K391E) in the GLA gene"
] | [
"systemic vasculopathy",
"severe cardiac and renal manifestations",
"normalization of LV systolic function",
"improvement of renal function",
"life-threatening sequelae",
"cardiac and renal disease"
] | [
"Enzyme replacement therapy (ERT) was started with agalsidase-β",
"early therapy"
] | null | [
"α-galactosidase A deficiency"
] | [
"without any likely causes"
] |
fabry:27431810 | Case report of a 45-year old female Fabry disease patient carrying two alpha-galactosidase A gene mutation alleles. | [
"X-chromosomal inheritance patterns and generally rare occurrence of Fabry disease (FD) account for mono-mutational hemizygous male and heterozygous female patients. Female mutation carriers are usually clinically much less severely affected, which has been explained by a suggested mosaicism in cell phenotype due 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 X-chromosomal inheritance patterns\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Fabry disease (FD)",
"Fabry disease"
] | [
"X-chromosomal inheritance patterns",
"mono-mutational hemizygous male",
"heterozygous",
"mutation carriers",
"mosaicism in cell phenotype",
"random allele shutdown",
"gene carriers",
"the two alpha-galactosidase A gene mutations c.416A > G, p.N139S in exon 3 and c.708G > C, p.W236C in exon 5",
"pre... | [
"clinically much less severely affected",
"less severe chronic kidney disease",
"only mild organ manifestations"
] | null | null | null | null |
fabry:27398254 | Fabry's Disease: Case Series and Review of Literature. | [
"Fabry's disease is an X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase A enzyme with the progressive accumulation of globotriaosylceramide in vascular endothelial cells leading to cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological 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's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disorder",
"end-stage renal disease",
"FD",
"ESRD"
] | [
"X-linked",
"heterozygote"
] | [
"cardiovascular, renal, gastrointestinal, neuropathic, lenticular, and dermatological manifestations"
] | null | null | [
"deficiency of alpha-galactosidase A enzyme"
] | null |
fabry:27333905 | 59-year-old female with breathlessness. | [
"A 59-year-old female underwent an electrocardiogram (ECG) and echocardiographic screening. Her brother died at quite a young age of kidney failure. Resting ECG showed borderline voltage criteria for left ventricular hypertrophy (LVH), with marked widespread T-wave inversion. Echocardiogram was normal, but in consi... | [
"<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 59-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Anderson-Fabry's disease (AFD)Cardiac amyloidosisGenotype (+)",
"phenotype (-) hypertrophic cardiomyopathy (HCM)Myocardial iron overloadNormal heart"
] | null | [
"borderline voltage criteria for left ventricular hypertrophy (LVH)",
"marked widespread T-wave inversion",
"exertional breathlessness",
"abnormal baseline ECG"
] | null | null | null | [
"Echocardiogram was normal",
"unobstructed coronaries"
] |
fabry:27241078 | [Combined heart and kidney transplantation in Fabry's disease: Long-term outcomes in two patients]. | [
"Fabry disease is a lysosomal storage disorder linked to an alpha-galactosidase A deficiency that can lead to heart and kidney failure. There is little data about the prognosis of patients who undergo a combined heart and kidney transplantation.",
"Two brothers who were diagnosed with Fabry disease after the age ... | [
"<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",
"severe hypertrophic cardiomyopathy",
"Fabry disease",
"cardiomyopathy"
] | null | [
"heart and kidney failure",
"end stage renal failure",
"kidney failure"
] | [
"combined heart and kidney transplantation",
"underwent a combined heart and kidney transplantation",
"transplantation",
"Combined heart and kidney transplantation"
] | null | [
"alpha-galactosidase A deficiency"
] | [
"No recurrence of the disease in the transplanted organs"
] |
fabry:27213840 | Sudden death following AV node ablation in a man with Fabry disease mimicking hypertrophic cardiomyopathy. | [
"We present a case of Fabry disease with an uncommon pattern of asymmetrical hypertrophy with septal prominence resulting in an erroneous diagnosis of hypertrophic cardilmyopathy clinically. The deceased presented for a medicolegal autopsy following his sudden death after an AV node ablation. Fabry disease continue... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a case 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-weight: bold; line-height: 1; bo... | [
"Fabry disease",
"Fabry disease",
"hypertrophic cardiomyopathy",
"Fabry disease"
] | null | [
"uncommon pattern of asymmetrical hypertrophy with septal prominence",
"sudden death"
] | [
"AV node ablation",
"early treatment"
] | null | null | [
"erroneous diagnosis of hypertrophic cardilmyopathy clinically"
] |
fabry:27190352 | Reaccumulation of globotriaosylceramide in podocytes after agalsidase dose reduction in young Fabry patients. | [
"Agalsidase-α 0.2 mg/kg every other week (eow) and agalsidase-β 1.0 mg/kg/eow are licensed in Europe as equipotent treatment of the α-galactosidase deficiency in Fabry disease. This case series describes the effects of agalsidase dose adjustments in serial kidney biopsies in switch patients.",
"All treatment-naïv... | [
"<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 Agalsidase-α 0.2 mg/kg every other week (eow) and agalsidase-β 1.0 mg/kg/eow\n <span style=\"font-size: 0.... | [
"Fabry disease",
"classical Fabry disease",
"Fabry Nephropathy",
"Fabry disease"
] | null | null | [
"Agalsidase-α 0.2 mg/kg every other week (eow) and agalsidase-β 1.0 mg/kg/eow",
"agalsidase dose adjustments",
"treatment-naïve",
"started on agalsidase-β 1.0 mg/kg/eow",
"switched to agalsidase-α 0.2 mg/kg/eow",
"after 5 years of agalsidase-β 1.0 mg/kg/eow",
"after 3 subsequent years of agalsidase-α 0.... | null | [
"α-galactosidase deficiency",
"Subsequent reduction of podocyte GL3",
"Partial clearance"
] | null |
fabry:27187040 | X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female. | [
"Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder resulting from deficiency of iduronate-2-sulphatase activity. The disease manifests almost exclusively in males; only 16 symptomatic heterozygote girls have been reported so far. We describe the results of X-chromosome inactivation an... | [
"<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 Mucopolysaccharidosis type II (MPS II)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Mucopolysaccharidosis type II (MPS II)",
"lysosomal storage disorder",
"MPS II",
"MPS II",
"MPS II"
] | [
"X-linked",
"heterozygous mutation p.Arg468Gln in the IDS gene",
"X inactivation analysed at three X-chromosome loci showed extreme skewing (96/4 to 99/1) in two patient's cell types",
"exclusive expression of the mutated allele",
"mutation in the IDS gene",
"the X inactivation ratio remained highly skewe... | [
"clinically severe disease"
] | [
"iPSC"
] | null | [
"deficiency of iduronate-2-sulphatase activity",
"deficiency of enzyme activity",
"enzyme activity"
] | null |
fabry:27160240 | Familial hypertrophic obstructive cardiomyopathy with the GLA E66Q mutation and zebra body. | [
"Fabry disease is caused by mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA. Among many gene mutations, E66Q mutation is under discussion for its pathogenicity because there is no clinical report showing pathological evidence of Fabry disease wi... | [
"<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",
"cardiac Fabry disease",
"hypertrophic obstructive cardiomyopathy (HOCM)",
"HOCM",
"Fabry disease"
] | [
"mutations in the α-galactosidase A (GLA) gene, which is located in X-chromosome coding for the lysosomal enzyme of GLA",
"gene mutations",
"E66Q mutation",
"E66Q mutation",
"E66Q mutation",
"c. 196G>C nucleotide change, which lead to the E66Q mutation of GLA gene",
"gene mutations in the disease genes ... | [
"chest discomfort on effort",
"severe left ventricular (LV) hypertrophy",
"LV outflow obstruction",
"Maximum LV outflow pressure gradient was 87 mmHg",
"increased the pressure gradient up to 98 mmHg",
"Maximum LV outflow pressure gradient was 100 mmHg",
"similar histological findings of Fabry disease"
] | null | [
"Japanese"
] | null | [
"Although the enzymatic activity of GLA was within normal range"
] |
fabry:27156739 | p.R301X Mutation and Variable Phenotypic Appearance of Fabry Disease. | [
"Fabry disease is an X-linked disorder. Due to deficiency of the enzyme a-galactosidase A, neutral glycosphingolipids (primarily globotriaosylceramide) progressively accumulate within lysosomes of cells in various organ systems, resulting in a multi-system disorder, affecting both men and women. Misdiagnosis and de... | [
"<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",
"multi-system disorder",
"Fabry disease",
"Fabry disease",
"chronic sclerosing glomerulonephritis for 2 years"
] | [
"X-linked disorder",
"p.R301X (c.901 C>T) mutation",
"genetic diseases"
] | [
"Cornea verticillata",
"heart involvement"
] | [
"Agalsidase alfa treatment"
] | null | [
"deficiency of the enzyme a-galactosidase A",
"Levels of α-galactosidase A were low in the proband and his mother and sister"
] | null |
fabry:27142047 | Severe Cardiomyopathy as the Isolated Presenting Feature in an Adult with Late-Onset Pompe Disease: A Case Report. | [
"Many inborn errors of metabolism can cause cardiomyopathy. Cardiomyopathy associated with glycogen storage includes PRKAG2-associated glycogen storage disease (GSD), Danon disease, infantile-onset Pompe disease (GSD II), GSD III, GSD IV, and phosphofructokinase deficiency (Tarui disease or GSD VII).We present a 35... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Many \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n inborn errors of metabolism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"cardiomyopathy",
"Cardiomyopathy associated with glycogen storage",
"PRKAG2-associated glycogen storage disease (GSD)",
"Danon disease",
"infantile-onset Pompe disease (GSD II)",
"GSD III",
"GSD IV",
"pregnancy",
"lysosomal GSD",
"Danon disease",
"Fabry disease",
"PRKAG2-associated cardiomyop... | [
"inborn errors of metabolism",
"paternally inherited pathogenic c.525delT (p.Glu176Argfs*45) and a de novo c.309C>G (p.Cys103Trp) with unknown pathogenicity"
] | [
"cardiomyopathy",
"primary hyperparathyroidism",
"dyspnea",
"left ventricular ejection fraction (LVEF) of 35%",
"nonischemic cardiomyopathy with an infiltrative process",
"proximal muscle weakness",
"respiratory insufficiency",
"isolated cardiomyopathy",
"respiratory failure"
] | [
"enjoyed excellent health until her first pregnancy at age 33"
] | null | [
"Acid alpha-glucosidase (GAA) activity in skin fibroblasts was in the affected range for Pompe disease"
] | [
"26-gene cardiomyopathy sequencing panel had normal results",
"excluding GSD III",
"without skeletal muscle involvement"
] |
fabry:27138316 | Wolff-Parkinson-White and left ventricular noncompaction in a Fabry patient: A case report. | [
"Fabry disease is the second most common inherited (X-linked recessive) lysosomal storage disease associated with multiple organ involvement. Cardiac involvement of Fabry disease varies. Successful radiofrequency ablation of a Fabry disease patient with Wolff-Parkinson-White syndrome and left ventricular noncompact... | [
"<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",
"Fabry disease",
"Fabry disease",
"Wolff-Parkinson-White syndrome"
] | [
"inherited (X-linked recessive)"
] | [
"multiple organ involvement",
"Cardiac involvement",
"left ventricular noncompaction"
] | [
"radiofrequency ablation"
] | null | null | null |
fabry:27131517 | Coronary artery bypass graft in a patient with Fabry's disease. | [
"Fabry's disease is a lysosomal storage disease characterized by intracellular accumulation of ceramide trihexoside resulting from alpha-galactosidase A deficiency. While the heart is often involved, coronary artery disease and its management in Fabry's disease patients are extremely rare clinical entities. We repo... | [
"<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",
"lysosomal storage disease",
"coronary artery disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"heart",
"left main disease",
"arterial wall pathology"
] | null | null | [
"alpha-galactosidase A deficiency"
] | null |
fabry:27129690 | Significant improvement in Fabry disease podocytopathy after 3 years of treatment with agalsidase beta. | [
"Fabry disease is an X-linked lysosomal disorder caused by decreased activity of α-galactosidase A (GLA). Consequent accumulation of globotriaosylceramide (GL-3) in lysosomes results in damage to a variety of organs, including the kidneys. Enzyme replacement therapy (ERT) is an effective treatment, but whether it s... | [
"<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 disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"M1T mutation in the GLA gene causing protein truncation"
] | [
"organ damage",
"severe sole pain for 3 years",
"pain had resolved",
"resolution of foot process effacement",
"pain",
"renal injury"
] | [
"Enzyme replacement therapy (ERT)",
"1 year of ERT with 1 mg/kg agalsidase beta once every 2 weeks",
"ERT combined with carbamazepine and pregabalin",
"3 years of the ERT",
"Early initiation of ERT"
] | null | [
"decreased activity of α-galactosidase A (GLA)",
"decreased GLA activity",
"dramatic improvement in nephrin expression"
] | [
"misdiagnosed with juvenile idiopathic arthritis",
"normal renal function and urinalysis"
] |
fabry:27061865 | Multiple parapelvic cysts in Fabry disease. | [
"Fabry disease is an inherited, X-linked lysosomal storage disorder caused by deficiency of the enzyme alpha galactosidase A (alpha-GLA A), which leads to glycosphingolipid accumulation, mainly globotriaosylceramide, in tissues. Disease prevalence and the index of suspicion are both low, which tends to result in de... | [
"<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"
] | [
"inherited, X-linked",
"alpha-GLA A gene mutation"
] | [
"multiple parapelvic cysts",
"renal failure",
"large number and peculiar appearance of the parapelvic cysts"
] | null | null | [
"deficiency of the enzyme alpha galactosidase A (alpha-GLA A)"
] | [
"no angiokeratoma lesions"
] |
fabry:26993117 | D313Y mutation in the differential diagnosis of white matter lesions: Experiences from a multiple sclerosis outpatient clinic. | [
"White matter lesions (WML) in younger patients might be due to a variety of neurological disorders. Fabry disease (FD), an x-linked inherited lysosomal storage disorder, happens to be misdiagnosed as multiple sclerosis (MS). In two middle-aged female patients, presenting bilateral WML, diagnosis of MS turned out 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 White matter lesions (WML)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"neurological disorders",
"Fabry disease (FD)",
"lysosomal storage disorder",
"multiple sclerosis (MS)"
] | [
"x-linked inherited",
"Fabry mutation D313Y",
"Fabry mutation D313Y"
] | [
"White matter lesions (WML)",
"bilateral WML",
"neural damage",
"WML"
] | null | null | null | [
"diagnosis of MS turned out to be doubtful",
"Disease manifestations outside the central nervous system were not detected"
] |
fabry:26989114 | Atypical patterns of cardiac involvement in Fabry disease. | [
"A 58-year-old woman was referred to our cardiology service with chest pain, exertional dyspnoea and palpitations on a background of known Fabry disease diagnosed with genetic testing in 1994. ECG showed sinus rhythm, shortened PR interval, widespread t wave inversion, q waves in the lateral leads and left ventricu... | [
"<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 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry cardiomyopathy",
"Fabry cardiomyopathy",
"lysosomal disorder"
] | [
"rare X-linked"
] | [
"chest pain",
"exertional dyspnoea",
"palpitations",
"sinus rhythm",
"shortened PR interval",
"widespread t wave inversion, q waves in the lateral leads",
"left ventricular hypertrophy (LVH)",
"only mild atheroma",
"anterolateral LVH",
"reduced left ventricular cavity size",
"asymmetric hypertro... | null | null | null | null |
fabry:26971403 | Kidney transplantation from a mother with unrecognized Fabry disease to her son with low α-galactosidase A activity: A 14-year follow-up without enzyme replacement therapy. | [
"We report a case of kidney transplantation from mother to son, both of whom were likely to have had an unrecognized renal variant phenotype of Fabry disease. The patient was a 54-year-old man, with an unknown primary cause of end stage renal disease. He had no notable past medical history, other than end stage ren... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case 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 kidney transplantation from mother to son\n <span style=\"font-size: 0.8em; font-weigh... | [
"end stage renal disease",
"end stage renal disease",
"left renal tumour",
"renal variant phenotype of Fabry disease"
] | [
"mutation of the α-Gal A gene"
] | [
"only moderate interstitial fibrosis",
"tubular atrophy"
] | [
"kidney transplantation from mother to son",
"living-related kidney transplantation from his mother",
"kidney transplantation",
"left nephrectomy",
"kidney transplantation"
] | null | [
"low α-galactosidase A activity"
] | [
"no notable past medical history",
"definitive diagnosis of Fabry's disease could not be confirmed",
"enzyme replacement therapy was not initiated",
"no evidence of disease progression on electron microscopy"
] |
fabry:26911544 | Pain management strategies for neuropathic pain in Fabry disease--a systematic review. | [
"Neuropathic pain is one of the key features of (classical) Fabry disease (FD). No randomized clinical trials comparing effectiveness of different pain management strategies have been performed. This review aims to give an overview of existing pain management strategies.",
"PubMed and Embase were searched up to S... | [
"<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 Neuropathic pain\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Neuropathic pain",
"Fabry disease (FD)",
"FD",
"neuropathic pain due to FD"
] | null | [
"complete pain relief",
"partial relief",
"complete relief",
"partial relief",
"significant reduction in the frequency of pain attacks",
"partial relief",
"Adverse-effects",
"adverse-effects"
] | [
"pain management strategies",
"pain management",
"treatment of neuropathic pain",
"Carbamazepine",
"Phenytoin",
"Gabapentin",
"SSNRI's",
"treatment combinations",
"carbamazepine",
"phenytoin",
"gabapentin",
"carbamazepine and phenytoin",
"second-generation antiepileptic drugs"
] | null | null | [
"no benefit",
"no benefit",
"no relief"
] |
fabry:26837682 | Coexistence of Fabry Disease and Membranous Nephropathy. | [
"A 21-year-old man with no family history or characteristic symptoms of Fabry disease presented with proteinuria. Histological and immunofluorescent analysis of kidney tissue collected revealed stage 1 membranous nephropathy. Electron microscopy of the same tissue revealed a large number of myeloid bodies (zebra bo... | [
"<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 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"stage 1 membranous nephropathy",
"Fabry disease",
"coexistent Fabry disease and stage 1 membranous nephropathy",
"coexistence of Fabry disease and membranous nephropathy",
"Fabry disease"
] | [
"pathogenic homozygous mutation in the α-galactosidase A gene"
] | null | null | null | [
"proteinuria",
"low α-galactosidase A activity detected in the patient's plasma"
] | [
"no family history or characteristic symptoms of Fabry disease"
] |
fabry:26736060 | Extensive angiokeratoma circumscriptum - successful treatment with 595-nm variable-pulse pulsed dye laser and 755-nm long-pulse pulsed alexandrite laser. | [
"Angiokeratomas are rare vascular mucocutaneous lesions characterized by small-vessel ectasias in the upper dermis with reactive epidermal changes. Angiokeratoma circumscriptum (AC) is the rarest among the five types in the current classification of angiokeratoma. We present a case of an extensive AC in 19-year-old... | [
"<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;... | [
"Angiokeratomas",
"Angiokeratoma circumscriptum",
"(AC)",
"angiokeratoma",
"extensive AC",
"angiokeratoma",
"extensive AC"
] | null | [
"rare vascular mucocutaneous lesions",
"small-vessel ectasias in the upper dermis with reactive epidermal changes",
"Fitzpatrick skin type I of the left lower extremity",
"significant morphological heterogeneity of the lesions",
"intermittent bleeding",
"negative psychological impact",
"significant remo... | [
"combined treatment with 595-nm variable-pulse pulsed dye laser (VPPDL) and 755-nm long-pulse pulsed alexandrite laser (LPPAL) with dynamic cooling device",
"VPPDL and LPPAL"
] | null | null | [
"association with metabolic diseases (Fabry disease) was excluded",
"ophthalmological, biochemical, and genetic examinations",
"Nuclear magnetic resonance imaging has not detected deep vascular hyperplasia pathognomic for verrucous hemangioma",
"No recurrence"
] |
fabry:26631895 | A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman. | [
"Fabry disease can cause various neurological manifestations. We describe the case of a Japanese woman with Fabry disease who presented with ischemic stroke, aseptic meningitis, and psychiatric symptoms. The patient had a mutation in intron 4 of her α-galactosidase A gene, which was not detected in her family. This... | [
"<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",
"Fabry disease"
] | [
"mutation in intron 4 of her α-galactosidase A gene"
] | [
"neurological manifestations",
"ischemic stroke",
"aseptic meningitis",
"psychiatric symptoms",
"central nervous system symptoms",
"ischemic stroke",
"episodes of aseptic meningitis",
"stroke",
"persistent inflammation"
] | null | [
"Japanese"
] | null | [
"no family history of the condition"
] |
fabry:26602202 | Late diagnosis of Fabry disease caused by a de novo mutation in a patient with end stage renal disease. | [
"We present the case of a white 35-year-old male with a diagnosis of Fabry disease and negative family history.",
"At the age of 31, he underwent a renal biopsy with a diagnosis of hypertension-induced nephroangiosclerosis. At the age of 35, he was referred to our hospital and started dialysis: the unusual findin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 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 white\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Fabry disease",
"hypertension-induced nephroangiosclerosis",
"Fabry disease",
"Fabry disease",
"Fabry disease affected subject with a de novo mutation"
] | [
"single nucleotide point mutation in hemizygosis at nucleotide c.901 C>T in exon 6 of the GLA gene",
"de novo mutation"
] | [
"left ventricular hypertrophy with a normal ejection fraction",
"myocardial fibrosis"
] | [
"dialysis",
"genetic counseling"
] | [
"white"
] | [
"low plasma levels of α-galactosidase A"
] | [
"negative family history",
"no apparent family history",
"none of them had any alteration in the GLA gene",
"absence of a typical family history"
] |
fabry:26454753 | Surges in proteinuria are associated with plasma GL-3 elevations in a young patient with classic Fabry disease. | [
"Fabry disease is an X-linked glycosphingolipidosis caused by deficient synthesis of the enzyme α-galactosidase A, which results in accumulations of globotriaosylceramide (GL-3) in systemic tissues. Nephropathy is a dominant feature of Fabry disease. It still remains unclear how the nephropathy progresses. Recombin... | [
"<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",
"glycosphingolipidosis",
"Nephropathy",
"Fabry disease",
"nephropathy",
"Fabry disease",
"classic Fabry disease"
] | [
"X-linked"
] | null | [
"Recombinant agalsidase replacement therapy",
"replacement enzyme",
"shortage of agalsidase-β",
"dose reduction of administration",
"1 mg/kg of agalsidase-β every other week",
"long-term, low-dose agalsidase-β",
"agalsidase-β at 1 mg/kg every other week"
] | null | [
"deficient synthesis of the enzyme α-galactosidase A",
"proteinuria emerged like surges",
"temporary plasma GL-3 elevations",
"negative proteinuria",
"normal plasma GL-3 levels",
"proteinuria surges, but not persistent proteinuria",
"temporary plasma GL-3 elevations"
] | [
"normal urinalysis and plasma GL-3 levels"
] |
fabry:26424312 | A Patient with the GLA p.E66Q Mutation Exhibiting Vascular Parkinsonism and Bilateral Pulvinar Lesions. | [
"A 76-year-old man was admitted to our hospital due to gait difficulty. Brain imaging indicated bilateral pulvinar lesions and moderate white matter lesions. The serum α-galactosidase A levels were measured for the differential diagnosis of bilateral pulvinar lesions and were found to be abnormally low. Therefore, ... | [
"<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 76-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"variant Fabry disease"
] | [
"p.E66Q mutation, which is speculated to be a functional polymorphism rather than a disease-causing mutation of Fabry disease"
] | [
"gait difficulty",
"bilateral pulvinar lesions",
"moderate white matter lesions",
"bilateral pulvinar lesions",
"disease progression stopped"
] | null | null | [
"serum α-galactosidase A levels",
"to be abnormally low"
] | [
"Enzyme replacement therapy did not result in a marked improvement"
] |
fabry:26384850 | Control of proteinuria with increased doses of agalsidase alfa in a patient with Fabry disease with atypical genotype-phenotype expression. | [
"Fabry disease is a rare X-linked lysosomal storage disorder of glycosphingolipids, caused by the partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A). The missense mutation pN215S usually causes a milder form of the disease with isolated cardiac involvement. We report a case of 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 of glycosphingolipids",
"Fabry",
"generalized disease"
] | [
"rare X-linked",
"missense mutation pN215S",
"pN215S mutation"
] | [
"isolated cardiac involvement",
"clinical deterioration"
] | [
"increased doses of the administered recombinant enzyme",
"Individualization of enzyme replacement therapy"
] | null | [
"partial or complete deficiency of the lysosomal enzyme alpha-galactosidase A (a-Gal A)",
"relapse in proteinuria"
] | null |
fabry:26338166 | Safe and Successful Treatment With Agalsidase Beta During Pregnancy in Fabry Disease. | [
"Fabry disease, an X-linked lysosomal storage disorder, is caused by α-galactosidase A deficiency and leads to accumulation of glycospinhgolipids in most tissues, with life-theratening consequences in the kidney, heart, and cerebrovascular system. Enzyme replacement therapy is available as 2 different preparations:... | [
"<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"
] | [
"X-linked"
] | [
"life-theratening consequences in the kidney, heart, and cerebrovascular system"
] | [
"Enzyme replacement therapy",
"2 different preparations: agalsidase alfa and agalsidase beta",
"Enzyme replacement therapy",
"preganacy",
"received agalsidase beta",
"pregnancy",
"enzyme replacement therapy",
"pregnancy"
] | null | [
"α-galactosidase A deficiency"
] | null |
fabry:26336553 | Fabry cardiomyopathy presenting with a high defibrillation threshold: A short case report. | [
"Fabry disease is an X-linked recessive glycosphingolipid storage disorder caused by a deficiency of lysosomal enzyme α-galactosidase A. It is recognized that Fabry disease patients often have ventricular arrhythmias. Although the effectiveness of implantable cardioverter-defibrillator (ICD) therapy in patients wit... | [
"<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",
"glycosphingolipid storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive"
] | [
"ventricular arrhythmias",
"ventricular fibrillation",
"high defibrillation thresholds"
] | [
"implantable cardioverter-defibrillator (ICD) therapy",
"ICD therapy",
"ICD"
] | null | null | null |
fabry:26333625 | Gastrointestinal involvement in Fabry disease. So important, yet often neglected. | [
"Fabry disease is an X-linked metabolic storage disorder due to the deficiency of lysosomal alpha-galactosidase A which causes accumulation of glycosphingolipids, primarily globotriaosylceramide, throughout the body. Gastrointestinal signs and symptoms-abdominal pain, nausea, diarrhea and diverticular disease--are ... | [
"<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 storage disorder",
"Fabry disease",
"Fabry disease (FD)",
"Fabry disease (FD)"
] | [
"X-linked"
] | [
"Gastrointestinal signs and symptoms",
"abdominal pain",
"nausea",
"diarrhea",
"diverticular disease",
"Gastrointestinal symptoms",
"intestinal dysmotility",
"impaired autonomic function",
"vasculopathy",
"myopathy",
"gastrointestinal symptoms",
"reduced gastrointestinal symptoms",
"early ga... | [
"enzyme replacement therapy"
] | null | [
"deficiency of lysosomal alpha-galactosidase A"
] | null |
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