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:17551292 | [Fabry's disease: a clinical case and literature review]. | [
"Fabry's disease is a congenital disorder of glycosphingolipid metabolism with an X-linked recessive inheritance, presenting with typical symptoms of pain crises, acroparesthesias, cutaneous and mucosal angiokeratomas, hypohidrosis, heart and kidney lesions, and other symptoms, which are described below. From 2001,... | [
"<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",
"congenital disorder of glycosphingolipid metabolism",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"with an X-linked recessive inheritance",
"inborn errors of metabolism"
] | [
"pain crises",
"acroparesthesias",
"cutaneous and mucosal angiokeratomas",
"hypohidrosis",
"heart and kidney lesions"
] | [
"enzyme replacement therapy"
] | null | [
"alpha-galactosidase A activity in dry blood sample"
] | [
"diagnosis of Fabry's disease was rejected"
] |
fabry:18046674 | Fabry disease: renal biopsy-proven cases from China. | [
"Fabry disease is a rare metabolic disorder resulting from deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA). Renal involvement is the major cause of morbidity and mortality in male patients. Here, we describe the largest series ever reported for this condition in China.",
"Nine patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"rare metabolic disorder",
"nonclassical Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"hemizygous males",
"novel missense mutation (F273L)"
] | [
"Renal involvement",
"mild renal function impairment",
"Extrarenal manifestations",
"acroparesthesia",
"hypohidrosis",
"abnormal electrocardiography",
"angiokeratoma",
"eye disorders",
"hypertension"
] | null | [
"China",
"China",
"China"
] | [
"deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA)",
"alpha-GalA activity in leukocyte",
"Proteinuria",
"about 0.3%-1.3% residual alpha-GalA activity in leukocytes"
] | [
"No cornea verticillata",
"lenticular opacities",
"were observed"
] |
fabry:18030877 | [Clinical stability of Fabry disease in 54 months' enzyme replacement therapy--follow-up of the first Polish study]. | [
"We present outcomes of 54 months' agalsidase beta enzyme replacement therapy of two 48- and 46-year-old brothers with Fabry disease. The diagnosis was confirmed in 1997, and at that moment serious damage of internal organs was observed. During enzyme replacement therapy in both brothers the following changes were ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present outcomes 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 54 months' agalsidase beta enzyme replacement therapy\n <span style=\"font-size: 0.... | [
"Fabry disease",
"Fabry disease"
] | null | [
"serious damage of internal organs",
"amelioration of gastrointestinal symptoms",
"gain of body weight",
"reduction of cardiac hypertrophy in ECG",
"improvement in coronary blood flow",
"absence of angina pectoris",
"dyspnea",
"partial remission of headache",
"acroparaesthesia",
"appearance of per... | [
"54 months' agalsidase beta enzyme replacement therapy",
"enzyme replacement therapy",
"Enzyme replacement therapy"
] | null | [
"Reduction of proteinuria",
"stabilization of creatinine clearance",
"stabilization of kidney function",
"proteinuria was slightly increased"
] | null |
fabry:18022018 | Kidney transplantation and enzyme alpha-galactosidase A therapy in patient with Fabry disease: a case report. | [
"Fabry disease, an X-linked recessive glycolipid storage disease, is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A), which cleaves a fatty substance called globotriaosylceramide (GL3). The abnormal storage of GL3 in blood vessel walls leads to ischemia and necrosis, particularly ... | [
"<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",
"glycolipid storage disease",
"Fabry disease",
"Fabry disease",
"end-stage renal disease",
"Fabry disease"
] | [
"X-linked recessive"
] | [
"ischemia and necrosis, particularly in blood vessels of the skin, kidneys, heart, brain, and nervous system",
"Renal manifestations",
"renal function worsened",
"progressive renal dysfunction",
"Renal graft function has been good"
] | [
"cadaveric kidney transplantation with enzyme alpha-Gal A therapy",
"supplemental enzyme treatment with alpha-Gal (1 mg/kg every 2 weeks)",
"supplementation",
"months of supplementation (alpha-Gal 1 mg/kg)",
"27 months of supplementation",
"hemodialysis",
"began",
"received a cadaveric kidney graft",
... | null | [
"deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A)",
"proteinuria",
"creatinine value of 5.5 mg/dL",
"serum creatinine was 3.9 mg/dL; on day 7, 2.2 mg/dL;"
] | [
"glomerular filtration rate (GFR) was within the normal range",
"no longer required dialysis",
"not interfere with tacrolimus metabolism"
] |
fabry:17957210 | Cardiac Fabry's disease: an unusual cause of left ventricular hypertrophy. | [
"A 64-year-old male was observed as an outpatient with atypical, non-exercise-induced chest pain and palpitations. He had arterial hypertension and marked concentric left ventricular hypertrophy. After 2.5 years of antihypertensive drug therapy the patient's blood pressure had returned to normal, but his left ventr... | [
"<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 64-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Cardiac Fabry's disease"
] | null | [
"atypical, non-exercise-induced chest pain",
"palpitations",
"arterial hypertension",
"marked concentric left ventricular hypertrophy"
] | [
"2.5 years of antihypertensive drug therapy",
"Losartan, hydrochlorothiazide, low-dose aspirin and bisoprolol",
"enzyme replacement therapy"
] | null | [
"blood pressure had returned to normal"
] | [
"left ventricular hypertrophy was unchanged"
] |
fabry:17941959 | Anderson-Fabry disease in kidneys from deceased donor. | [
"Anderson-Fabry disease (AFD) is a rare, X-linked lysosomal storage disease that leads to progressive intracellular accumulation of globotriaosylceramide in visceral organs and the vascular endothelium. We report two patients with end-stage renal disease who received renal allograft from deceased female donor who d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"lysosomal storage disease",
"end-stage renal disease",
"AFD",
"AFD"
] | [
"X-linked"
] | [
"died",
"heart failure",
"stable graft function",
"Changes were less intensive",
"died",
"heart attack"
] | [
"renal allograft",
"deceased female",
"received a renal allograft",
"transplantation",
"kidney allograft",
"deceased donor"
] | [
"Italian",
"Adriatic coast"
] | [
"low-range proteinuria",
"nonnephrotic proteinuria"
] | [
"renal function was normal"
] |
fabry:17906770 | [Cornea verticillata - a clinical marker of Fabry disease: case report]. | [
"Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include 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'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 of glycosphingolipid (GL) metabolism",
"Fabry's disease"
] | [
"rare X-linked",
"hemizygous males"
] | [
"angiokeratomas",
"acroparesthesia",
"cornea verticillata",
"cardiac and kidney involvement",
"cerebrovascular manifestations",
"Cornea verticillata",
"eye findings"
] | null | null | [
"deficiency of alpha-galactosidase A activity"
] | null |
fabry:17697536 | Enzyme replacement therapy in patients with Fabry's disease. | [
"Fabry's disease, a disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A), can cause accumulation of globotriaosylceramide (GL-3) in the vascular endothelial cells. Symptoms include pain, angiokeratoma, corneal clouding, and damage to the heart and kidneys. Human recombinant alpha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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"
] | [
"disorder affecting the gene for the lysosomal enzyme alpha-galactosidase A (alpha-GAL A)"
] | [
"pain",
"angiokeratoma",
"corneal clouding",
"damage to the heart and kidneys",
"died",
"factors associated with Fabry's disease",
"improvement in the daily activities",
"reduction in corneal clouding"
] | [
"Human recombinant alpha-GAL A for use as an enzyme replacement therapy",
"replacement alpha-GAL A therapy",
"enzyme replacement therapies",
"replacement alpha-GAL A therapy"
] | [
"Japan"
] | [
"lowering of the plasma levels of GL-3"
] | [
"without any notable adverse events"
] |
fabry:17668583 | [Renal involvement in Fabry disease]. | [
"Fabry disease is an X-linked recessive lysosomial storage disorder that is caused by deficient activity of alpha galactosidase A. Renal involvement occurs generally in hemizygous forms.",
"We report one case of renal involvement in Fabry disease.",
"A 47 year-old-man had focal and segmental glomerulosclerosis ... | [
"<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",
"lysosomial storage disorder",
"Fabry disease",
"focal and segmental glomerulosclerosis",
"glomerulonephritis",
"Fabry disease"
] | [
"X-linked recessive",
"hemizygous forms",
"hemizygous Fabry disease"
] | [
"Renal involvement",
"renal involvement",
"moderate renal failure",
"acroparesthesias",
"hearing loss",
"left ventricular hypertrophy",
"arrhythmia",
"corneal deposits",
"renal function remains stable",
"died",
"cardiac arrhythmia",
"associated with an hypertrophic cardiopathy"
] | null | null | [
"low alpha galactosidase activity"
] | [
"without hypertension"
] |
fabry:17624552 | Postmortem diagnosis of Fabry disease with acromegaly and a unique vasculopathy. | [
"A 44-year-old Japanese man with elevated growth hormone levels and gradual deterioration of mental and renal function was admitted to the hospital. With his deteriorated general condition and renal failure, the patient developed pulmonary thromboembolism and died of respiratory failure. Autopsy examination was con... | [
"<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 44-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"acromegaly",
"acromegaly",
"Farby disease"
] | null | [
"gradual deterioration of mental and renal function",
"deteriorated general condition",
"renal failure",
"pulmonary thromboembolism",
"died",
"respiratory failure",
"unique vasculopathy",
"unique vasculopathy causing significant organ failure, mainly of the kidney, heart, and central nervous systems",... | null | [
"Japanese"
] | [
"elevated growth hormone levels"
] | null |
fabry:17610610 | Fabry disease: case report with emphasis on enzyme replacement therapy and possible future therapeutic options. | [
"A 38-year-old male Caucasian with Fabry disease presented with angiokeratomas and tortuous conjunctival and retinal vessels. Additionally, the patient showed characteristic skin lesions of psoriasis and seborrheic dermatitis. His past medical history revealed anhidrosis, acral paresthesias, myocardial infarction, ... | [
"<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 38-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"phlebothrombosis",
"chronic obstructive lung disease",
"Fabry disease"
] | null | [
"angiokeratomas",
"tortuous conjunctival and retinal vessels",
"characteristic skin lesions of psoriasis and seborrheic dermatitis",
"anhidrosis",
"acral paresthesias",
"myocardial infarction",
"hypertension",
"tinnitus",
"diarrhea",
"recurrent abdominal pain",
"headache",
"depressive mood"
] | null | [
"Caucasian"
] | [
"antithrombin III deficiency",
"factor V Leiden disease"
] | null |
fabry:17420068 | Angiokeratoma corporis diffusum in human beta-mannosidosis: Report of a new case and a novel mutation. | [
"Human beta-mannosidosis, a rare disorder of oligosaccharide catabolism, results from a deficiency of beta-mannosidase activity. So far, mutational analysis has been performed in only seven families and revealed 11 mutations in the MANBA gene which encodes the enzyme beta-mannosidase.",
"We report here a 36-year-... | [
"<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 beta-mannosidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Human beta-mannosidosis",
"rare disorder of oligosaccharide catabolism",
"beta-mannosidosis",
"human beta-mannosidosis",
"beta-mannosidosis",
"lysosomal storage diseases"
] | [
"11 mutations in the MANBA gene which encodes the enzyme beta-mannosidase",
"novel null mutation",
"MANBA gene mutations",
"mutation in the MANBA gene",
"a G-->A transition in exon 6 at nucleotide position c.693, resulting in the formation of a stop codon (W231X).",
"MANBA gene mutation",
"MANBA gene mu... | [
"mental retardation",
"multiple angiokeratomas",
"characteristic findings of angiokeratoma",
"angiokeratoma corporis diffusum"
] | null | [
"Arab",
"Arab ancestry"
] | [
"deficiency of beta-mannosidase activity",
"Enzymatic activity of beta-mannosidase in the patient's serum, leukocytes, and fibroblasts was less than 1% of control values"
] | null |
fabry:17391450 | Gastrointestinal symptoms in Fabry disease: everything is possible, including treatment. | [
"Gastrointestinal symptoms in Fabry disease were first described independently by William Anderson and Johannes Fabry. Case reports and case series suggest that the whole gastrointestinal tract may be affected in patients with Fabry disease. The Fabry Outcome Survey (FOS) database supports these observations. The 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 Gastrointestinal symptoms\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"Gastrointestinal symptoms",
"whole gastrointestinal tract",
"gastrointestinal involvement",
"Abdominal pain",
"gastrointestinal symptoms",
"acroparaesthesia",
"gastrointestinal symptoms",
"Gastrointestinal symptoms",
"gastrointestinal symptoms"
] | [
"enzyme replacement therapy with agalsidase alfa for 12 and 24 months",
"enzyme replacement therapy"
] | null | null | [
"no correlation between gastrointestinal symptoms",
"body mass index"
] |
fabry:17391449 | Optimization of concomitant medication in Fabry cardiomyopathy. | [
"We describe a male patient with Fabry disease and use this case study to illustrate the importance of a detailed cardiovascular evaluation and the role of supportive therapy in routine management of the disease. The major areas of discussion include the management of exertional chest pain, progressive heart failur... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease",
"atrial and ventricular arrhythmia"
] | null | [
"exertional chest pain",
"progressive heart failure",
"cardiovascular symptoms",
"arrhythmia",
"stroke"
] | [
"supportive therapy",
"enzyme replacement therapy",
"conventional pharmacological and device-based therapies"
] | null | null | null |
fabry:17371887 | Narrative review: Fabry disease. | [
"Fabry disease is an X-linked, hereditary, lysosomal storage disease caused by deficiency of the enzyme alpha-galactosidase A, which results in the accumulation of the neutral glycosphingolipid globotriaosylceramide (Gb3) in the walls of small blood vessels, nerves, dorsal root ganglia, renal glomerular and tubular... | [
"<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",
"multisystem disorder"
] | [
"X-linked",
"hereditary"
] | [
"chronic pain and acroparesthesia",
"gastrointestinal disturbances",
"characteristic skin lesions (angiokeratomata)",
"progressive renal impairment",
"cardiomyopathy",
"stroke"
] | [
"Enzyme replacement therapy (ERT) with intravenous infusions of recombinant human alpha-galactosidase A",
"ERT"
] | null | [
"deficiency of the enzyme alpha-galactosidase A",
"consistently decreases Gb3 levels in plasma"
] | [
"are not responsive to enzymes delivered intravenously"
] |
fabry:17273003 | A diagnosis of Fabry gastrointestinal disease by chance: a case report. | [
"Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A. This determines an accumulation of globotriaosylceramide within lysosomes. The clinical picture is highly variable and depends on cellular storage deposition. Renal, cardiac and nervous system are the most frequ... | [
"<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"
] | [
"X-linked"
] | [
"Renal, cardiac and nervous system",
"Gastrointestinal involvement",
"clinical signs of Fabry disease",
"gastrointestinal involvement",
"Fabry disease",
"complete disappearance of signs"
] | [
"Enzyme replacement therapy",
"3 months"
] | null | null | null |
fabry:17261284 | Azoospermia as a new feature of Fabry disease. | [
"To describe two cases of azoospermia in men with Fabry disease.",
"Case report.",
"Centre hospitalier universitaire, maternité Pellegrin, Bordeaux, France.",
"Two infertile men with azoospermia and with Fabry disease.",
"Testicular biopsies.",
"Histological and electron microscopy analysis of testicular ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n azoospermia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"azoospermia",
"Fabry disease",
"Centre hospitalier universitaire",
"maternité Pellegrin",
"azoospermia",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"pregnancies",
"genital involvement"
] | [
"testicular sperm extraction",
"intracytoplasmic sperm injection",
"sperm retrieval",
"deliveries of healthy children",
"4 years of agalsidase-beta therapy",
"agalsidase therapy",
"sperm cryopreservation"
] | [
"Bordeaux",
"France"
] | [
"Azoospermia",
"Azoospermia"
] | null |
fabry:17256799 | Pulmonary manifestations of Fabry disease and positive response to enzyme replacement therapy. | [
"Fabry disease affects multiple organs, including the lungs. To date, there have been no reports of the effect of enzyme replacement therapy on patients with pulmonary manifestations of the disease. We report on a case of marked improvement of pulmonary signs and symptoms in a patient with Fabry disease following 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",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"multiple organs, including the lungs",
"pulmonary manifestations",
"marked improvement of pulmonary signs and symptoms",
"dyspnea",
"marked improvement in her pulmonary symptoms",
"pulmonary dysfunction"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy",
"constant supplemental oxygen",
"bi-weekly treatment with agalsidase beta",
"returning to an active lifestyle",
"Enzyme replacement therapy"
] | null | null | [
"no longer needing supplemental oxygen"
] |
fabry:17236300 | Clinical spectrum of Anderson Fabry disease in a Romanian family. | [
"Anderson Fabry disease (alpha galactosidase A deficiency) is an X-linked recessive lysosomal storage disorder; alpha galactosidase A deficiency results in accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promoting development of disease with renal, cardiovas... | [
"<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 disorder",
"Anderson Fabry disease (AFD)",
"aseptic osteonecrosis"
] | [
"X-linked recessive"
] | [
"renal, cardiovascular, and cerebrovascular involvement",
"intermittent pain in the extremities (acroparesthesias)",
"episodic \"Fabry crisis\" of acute pain lasting hours to days",
"characteristic skin lesions (angiokeratomas)",
"hypohidrosis",
"heat and cold intolerance",
"full-blown manifestation",
... | [
"novel enzyme replacement therapy"
] | null | [
"alpha galactosidase A deficiency",
"alpha galactosidase A deficiency",
"markedly deficient alpha galactosidase A (alpha Gal A) activity in peripheral leucocytes"
] | null |
fabry:17234336 | Fabry disease mimicking multiple sclerosis. | [
"Fabry disease is an X-linked recessive lysosomal storage disorder resulting from the deficiency of alpha-galactosidase. This disease causes endothelial vasculopathy and affects multiple organ systems. Hemizygous male patients represent the classical renal, cardiac and neurological symptoms of disease. Heterozygous... | [
"<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 recessive",
"Hemizygous male",
"Heterozygous"
] | [
"endothelial vasculopathy",
"affects multiple organ systems",
"classical renal, cardiac and neurological symptoms",
"cerebrovascular events",
"neurological damage",
"Severe neurological signs",
"multifocal small vessel occlusions",
"recurrent neurological deficits",
"multifocal small vessel involvem... | null | null | [
"deficiency of alpha-galactosidase",
"proteinuria",
"proteinuria"
] | [
"asymptomatic",
"without major thrombosis",
"previously been misdiagnosed as multiple sclerosis",
"etiology could not be identified"
] |
fabry:17224109 | [Intergluteal angiokeratoma circumscriptum. Report of one case]. | [
"The term angiokeratoma is applied to several diseases with cutaneous vascular lesions.",
"A 26-year-old male presented with an intergluteal tumor from childhood until the present time, which was treated on several occasions without results. The patient presented to the hospital complaining of a painful and bleed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The term \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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"angiokeratoma",
"angiokeratoma of Mibelli",
"angiokeratoma of Fordyce",
"angiokeratoma circumscriptum",
"verrucous hemangioma",
"Fabry disease type II",
"angiokeratoma corporis diffusum)"
] | null | [
"cutaneous vascular lesions",
"intergluteal tumor",
"painful and bleeding intergluteal tumor",
"angiokeratomas",
"angiokeratoma corporis diffusum",
"solitary angiokeratoma",
"angiokeratoma corporal circumscriptum"
] | [
"surgery"
] | null | null | [
"without results"
] |
fabry:17222302 | Fabry disease in a heterozygote presenting as hand ischaemia and painful acroparaesthesia. | [
"A 48-year-old woman presented with acute unilateral ischaemia of the left hand. She had a background of chronic peripheral neuropathic pain, palpitations, anaemia and an episode of superficial thrombophlebitis. Physical examination revealed non-blanching purple discoloration of her left fingers and her left thumb,... | [
"<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 48-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | null | [
"acute unilateral ischaemia of the left hand",
"chronic peripheral neuropathic pain",
"palpitations",
"episode of superficial thrombophlebitis",
"non-blanching purple discoloration of her left fingers",
"her left thumb, index finger and thenar eminance appeared ischaemic",
"reduced flow"
] | null | null | [
"anaemia",
"reduced peripheral blood leukocyte alpha-galactosidase A activity"
] | [
"Skin punch biopsy histology was unremarkable"
] |
fabry:17100396 | Clinical and molecular characterization of an extended family with Fabry disease. | [
"To characterize clinical manifestations, biochemical changes, mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA), and functional capability of mutant protein.",
"Seventeen subjects from a family with a newly diagnosed patient with Fabry disease were enrolled in the present study. In each individual, clin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To characterize clinical manifestations, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n biochemical changes\n <span style=\"font-size: 0.8em; font-weight... | [
"renal insufficiency"
] | [
"mutation of alpha-Galactosidase (alpha-Gal A) gene A (GLA)",
"novel mutation, p.L106R, in the GLA gene"
] | [
"biochemical changes",
"severe neuropathic pain",
"acroparesthesia",
"hypo-/hyper-hidrosis",
"frequent syncope",
"ischemic stroke",
"cardiac hypertrophy",
"corneal dystrophy",
"cart-wheel cataract",
"high frequency sensorineural hearing loss",
"periorbital edema",
"subcutaneous edema over hand... | null | null | [
"leukocyte enzyme activity of alpha-Gal A",
"little or no enzyme activity compared to the normal protein"
] | [
"None",
"angiokeratoma or renal symptoms",
"absence of angiokeratoma and renal symptoms"
] |
fabry:17098778 | Electrophysiological study in a patient with Fabry disease and a short PQ interval. | [
"A short PQ interval is a common finding in patients with Fabry disease. However, there have been few electrophysiological studies in Fabry disease, and it is not clear whether the short PQ interval that is present in this disease results from preexcitation or enhanced atrioventricular nodal conduction. We present ... | [
"<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 short PQ interval\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"short PQ interval",
"short PQ interval",
"preexcitation",
"enhanced atrioventricular nodal conduction",
"syncope",
"sick sinus syndrome",
"PQ interval of 80 ms",
"palpitations",
"PA, AH, and HV intervals of 24, 32, and 34 ms",
"features of enhanced atrioventricular nodal conduction",
"short PQ ... | null | null | null | [
"The presence of an atrioventricular accessory pathway was excluded"
] |
fabry:17063070 | Diagnosis of Anderson-Fabry's disease in over seventy-year-old women: description of two cases. | [
"Anderson-Fabry's disease (AFD) is a rare inborn X-linked sphingolipid storage disorder. Deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GAL-A) leads to progressive accumulation of glycosphingolipids within most visceral tissues and body fluids of affected patients, provoking a clinical synd... | [
"<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's disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Anderson-Fabry's disease (AFD)",
"sphingolipid storage disorder",
"AFD",
"AFD"
] | [
"rare inborn X-linked",
"heterozygous",
"genetic disorder"
] | [
"nervous system, renal, cardiac, ophthalmologic and cutaneous manifestations",
"clinical signs of multi-organ involvement",
"cardiomyopathy",
"vascular encephalopathy"
] | null | null | [
"Deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-GAL-A)"
] | [
"without identification of major vascular risk factors"
] |
fabry:17019980 | Detection of preclinical left ventricular dysfunction in Fabry disease: the contribution of tissue Doppler. | [
"Fabry disease is a rare X-linked lysosomal storage disorder caused by a deficiency of alpha-galactosidase, which results in progressive intracellular accumulation of glycosphingolipids in various tissues. Cardiac involvement is frequent, with left ventricular (LV) hypertrophy (concentric, apical or asymmetric sept... | [
"<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",
"Fabry disease"
] | [
"rare X-linked"
] | [
"Cardiac involvement",
"left ventricular (LV) hypertrophy (concentric, apical or asymmetric septal)",
"LV systolic dysfunction",
"impaired myocardial function",
"changes in global and regional longitudinal myocardial function",
"cardiac dysfunction",
"LV dimensions",
"ejection fraction (using Simpson'... | null | null | [
"deficiency of alpha-galactosidase"
] | [
"no cardiac symptoms",
"no cardiac symptoms",
"normal LV systolic function on conventional echocardiography",
"regardless of LV hypertrophy"
] |
fabry:16939546 | Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey. | [
"Hypohidrosis is a classic feature of Fabry disease; in contrast, hyperhidrosis has only been rarely described. The aim of the study is to characterise the baseline descriptive data on hyperhidrosis (frequency, age at onset, sex ratio and outcome with and without enzyme replacement therapy) in hemizygous male and h... | [
"<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 Hypohidrosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"hyperhidrosis",
"Fabry disease",
"Fabry disease"
] | [
"hemizygous male",
"heterozygous"
] | [
"Hypohidrosis",
"hyperhidrosis",
"hyperhidrosis",
"hyperhidrosis",
"hyperhidrosis",
"additional symptoms related to Fabry disease",
"hyperhidrosis",
"Hyperhidrosis"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy"
] | [
"UK"
] | null | null |
fabry:16913464 | [Two cases of heterozygous Fabry disease]. | [
"We report two cases of heterozygous Fabry disease with severe organ damage. Case 1 was a 47-year-old woman. In April 1977, at the age of 27 years, she had proteinuria and edema around the 26th week of her second pregnancy and was diagnosed as toxicosis of pregnancy. She had proteinuria after the delivery. In 1990,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n heterozygous Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"heterozygous Fabry disease",
"toxicosis of pregnancy",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"chronic renal failure"
] | null | [
"severe organ damage",
"edema around the 26th week of her second pregnancy",
"severe hypertension",
"decreased renal function",
"severe hypertension",
"cerebral infarction",
"cardiac hypertrophy",
"old myocardial infarction",
"renal failure",
"persistent numbness and pain in the four extremities",... | [
"alpha-galactosidase enzyme replacement therapy",
"enzyme replacement therapy"
] | null | [
"proteinuria",
"proteinuria"
] | [
"despite treatment, she",
"was started on dialysis",
"without diabetes mellitus",
"hyperlipidemia and collagen disease",
"asymptomatic or mildly symptomatic"
] |
fabry:16899426 | Fabry disease in a female patient due to a de novo point mutation at position 691 of exon 5. | [
"Fabry disease is an X-linked lysosomal disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. We report on a 32-year-old female patient with an 8-year history of vascular lesions on the hips and periumbilical region and a presumed Fabry disease without positive family history. Ophthalmologic ... | [
"<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"
] | [
"X-linked",
"de novo point mutation at position 691 of exon 5"
] | [
"vascular lesions on the hips and periumbilical region",
"whorl-like corneal opacities",
"myxomatous degeneration and prolapse of the mitral valve"
] | [
"intravenous enzyme replacement therapy with agalsidase alfa"
] | null | null | [
"without positive family history",
"without drug-related reactions"
] |
fabry:16848212 | [Ocular findings in Fabry's disease]. | [
"Fabry's disease is a recessive X-linked disorder that results from a deficiency of the lysosomal hydrolase a-galactosidase A (alpha-Gal A). The absence of alpha-Gal A enzyme activity leads to accumulation of glycosphingolipid globotryaosyl ceramide (GL-3) in the lysosomes of a variety of cell types. Subsequently, ... | [
"<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",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"recessive X-linked disorder"
] | [
"angiokeratoma",
"ocular signs",
"severe renal dysfunction",
"cardiomyopathy",
"Corneal opacities",
"cornea verticillata)",
"vascular changes",
"retinal vessel tortuosity",
"cataracts",
"skin changes early referred as petechiae",
"acroparesthesias",
"low heat tolerance",
"angiokeratoma on gl... | [
"enzyme replacement therapy",
"enzyme replacement therapy was started with recombinant alpha-Gal A enzyme (Fabrazyme) 1 mg/kg every 14 days"
] | [
"Croatia",
"Croatia"
] | [
"deficiency of the lysosomal hydrolase a-galactosidase A (alpha-Gal A)",
"absence of alpha-Gal A enzyme activity",
"proteinuria",
"erythrocyturia",
"Urine analysis in several occasions 10-15 E in sediment",
"alb. positive",
"very low alpha GAL enzyme activity in blood (alpha-Gal A = 0.5 +/- 0.2 nmol of ... | [
"virtually no sweat"
] |
fabry:16838183 | IgA nephropathy in two adolescent sisters heterozygous for Fabry disease. | [
"We report a 16-year-old girl and her one-year-younger sister, both heterozygous for the c.34del24 mutation of the GLA (alpha-galactosidase A) gene, which they inherited from their father who is affected by Fabry disease (FD). Both girls presented with macrohematuria and rapidly progressing proteinuria. Urine analy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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... | [
"glomerulonephritis",
"IgA nephropathy",
"IgA nephropathy",
"FD"
] | [
"heterozygous for the c.34del24 mutation of the GLA (alpha-galactosidase A) gene"
] | null | null | null | [
"macrohematuria",
"rapidly progressing proteinuria",
"glomerular hematuria",
"nephrotic range of proteinuria"
] | null |
fabry:16827254 | Angiokeratoma of tongue: a series of 14 cases. | [
"Angiokeratomas (AC) are vascular lesions which are defined histologically as one or more dilated blood vessels lying directly subepidermal and showing an epidermal proliferative reaction with ectatic capillaries in the papillary dermis. Only three other cases of isolated mucosal angiokeratoma have been reported in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratomas (AC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.... | [
"Angiokeratomas (AC)",
"AC in tongue"
] | null | [
"vascular lesions",
"one or more dilated blood vessels lying directly subepidermal",
"isolated mucosal angiokeratoma",
"angiokeratoma located on the tongue",
"Hyperkeratosis",
"acanthosis"
] | null | null | null | [
"lack deep dermal involvement",
"No clinical data was available to assess systemic disease"
] |
fabry:16823707 | [Manifestation of Fabry disease in a heterozygous female patient. New perspectives using enzyme replacement therapy]. | [
"A 32-year-old woman with bilateral corneal opacities was at 9 years of age diagnosed to have reduced activity of the enzyme alpha-galactosidase A. She was admitted to our hospital because of skin lesions that had developed over the last 8 years.",
"The clinical features included angiokeratomas on the buttocks, h... | [
"<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 32-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | [
"hemizygous",
"heterozygous"
] | [
"bilateral corneal opacities",
"skin lesions that had developed over the last 8 years",
"angiokeratomas on the buttocks, hips, and periumbilical region",
"whorl-like corneal opacity (cornea verticillata)",
"mitral valve prolapse",
"complete spectrum of symptoms and signs",
"milder oligosymptomatic cours... | [
"Enzyme replacement therapy with agalsidase alfa 0.2 mg/kg body-weight, infused over 40 min every other week"
] | null | [
"Activity of alpha-galactosidase A was reduced to about a quarter of the normal value",
"deficient alpha-galactosidase A activity",
"residual enzyme activity is present",
"significantly reduced enzyme activity"
] | [
"no side effects due to the infusion therapy"
] |
fabry:16765825 | Corneal clouding: An infrequent ophthalmic manifestation of mitochondrial disease. | [
"Corneal clouding is uncommon in infants and children but when present in this age group, it is often associated with mucopolysaccharidoses or Fabry disease. This report describes the case of an 11-year-old male who demonstrated poor weight gain, short stature, segmental myoclonus, and learning problems from 5 year... | [
"<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 Corneal clouding\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"mucopolysaccharidoses",
"Fabry disease",
"mitochondrial disease",
"mitochondrial disease"
] | null | [
"Corneal clouding",
"poor weight gain",
"short stature",
"segmental myoclonus",
"learning problems",
"general weakness",
"extremely poor balance",
"Corneal clouding",
"blurred vision complaint",
"ptosis",
"progressive weakness",
"positive Gowers' sign",
"corneal clouding"
] | null | null | null | [
"analysis of lysosomal enzymes displayed negative findings",
"normal urine metabolic screening for mucopolysaccharidoses",
"assays of lysosomal enzymes appear normal"
] |
fabry:16755835 | The histological basis of late gadolinium enhancement cardiovascular magnetic resonance in a patient with Anderson-Fabry disease. | [
"Anderson-Fabry Disease (AFD) is a storage disease that mimics hypertrophic cardiomyopathy. Late gadolinium enhancement (LGE) by cardiovascular magnetic resonance occurs in approximately 50% of patients in the basal inferolateral LV wall, but how an intracellular storage disease causes focal LGE is unknown. We pres... | [
"<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)",
"storage disease",
"hypertrophic cardiomyopathy",
"intracellular storage disease"
] | null | [
"Late gadolinium enhancement (LGE)",
"in the basal inferolateral LV wall",
"focal LGE",
"LGE",
"focal myocardial collagen scarring",
"electrical re-entry",
"sudden arrhythmic death",
"distribution of fibrosis",
"inhomogeneous left ventricular wall stress"
] | null | null | null | null |
fabry:16733219 | Histologic and electron microscopy findings in myocardium of treated Fabry disease. | [
"The well-described histologic and electron microscopic findings in Fabry disease cardiomyopathy are hypertrophic vacuolated cells with electron dense concentric lamellar bodies. We present altered findings in an endomyocardial biopsy from a patient with treated Fabry disease. A 51-year-old male with Fabry disease,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The well-described histologic and \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n electron microscopic\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"Fabry disease cardiomyopathy",
"treated Fabry disease",
"Fabry disease",
"long-standing treated Fabry disease"
] | null | [
"heart failure",
"widespread hypertrophy"
] | [
"treated with recombinant alpha-galactosidase enzyme replacement therapy for over 18 months"
] | null | null | [
"failed to reveal the characteristic globotriaosylceramide concentric lamellar bodies (myelin figures) in the sarcoplasm"
] |
fabry:16721592 | Fabry disease and nephrogenic diabetes insipidus. | [
"Fabry disease is a lysosomal storage disorder with kidney involvement. The initial manifestation of kidney disease is often impaired urinary concentrating ability in adolescence or young adulthood. We describe a boy diagnosed prenatally with Fabry disease who presented with polyuria, polydipsia, hypertension, hypo... | [
"<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",
"kidney disease",
"Fabry disease",
"nephrogenic diabetes insipidus",
"Fabry disease"
] | null | [
"kidney involvement",
"impaired urinary concentrating ability",
"polyuria",
"hypertension",
"rapid improvement of symptoms",
"renal pathology",
"hypertension",
"nephrogenic diabetes insipidus"
] | [
"Angiotensin converting-enzyme therapy"
] | null | [
"polydipsia",
"hypokalaemia",
"proteinuria",
"normalization of blood pressure",
"resolution of hypokalaemia and proteinuria",
"proteinuria"
] | null |
fabry:16702499 | Angiokeratoma corporis diffusum in a patient with no recognizable enzyme abnormalities. | [
"Angiokeratoma corporis diffusum is a clinical variant of angiokeratoma that is typically associated with an enzyme deficiency in the metabolism of glycoprotein, most notably Fabry disease, resulting in many other systemic manifestations.",
"We report a case of angiokeratoma corporis diffusum that did not have 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 Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Fabry disease",
"Angiokeratoma corporis diffusum"
] | null | [
"Angiokeratoma corporis diffusum",
"angiokeratoma",
"systemic manifestations",
"angiokeratoma corporis diffusum"
] | null | null | [
"enzyme deficiency in the metabolism of glycoprotein"
] | [
"did not have an identifiable enzyme deficiency",
"without recognizable enzyme deficiencies",
"benign"
] |
fabry:16680390 | Rheumatologic aspects of lysosomal storage diseases. | [
"Lysosomal storage diseases are rare metabolic disorders, some of which can now be treated using enzyme replacement therapies. Because the time point of treatment initiation significantly influences the outcome in Gaucher disease, Fabry disease, and mucopolysaccharidosis type I, early diagnosis is of utmost importa... | [
"<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 diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Lysosomal storage diseases",
"rare metabolic disorders",
"Gaucher disease",
"Fabry disease",
"mucopolysaccharidosis type I",
"lysosomal storage disease"
] | null | [
"musculoskeletal symptoms",
"symptom constellations"
] | [
"enzyme replacement therapies"
] | null | null | null |
fabry:16669184 | Detection of Anderson-Fabry cardiomyopathy with CMR in a patient with chest pain and elevated cardiac biomarkers. | [
"This case illustrates the utility of CMR in evaluating a patient with undiagnosed Anderson-Fabry disease who presented with chest pain, elevated cardiac biomarkers, normal coronary arteries, and an abnormal echocardiogram."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case illustrates the utility 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 CMR\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"undiagnosed Anderson-Fabry disease"
] | null | [
"chest pain",
"abnormal echocardiogram"
] | null | null | [
"elevated cardiac biomarkers"
] | [
"normal coronary arteries"
] |
fabry:16601876 | Manifestations of Fabry disease in placental tissue. | [
"Fabry disease is an X-linked lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-galactosidase A. Manifestations of the disease in placental tissue have been reported only twice. We report for the first time on the biochemical, histological and genetic features of two cases: placenta A 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",
"CTH"
] | [
"X-linked"
] | [
"cellular and organ damage"
] | null | null | [
"CTH values were markedly elevated as compared to the controls",
"alpha-Gal activity in both fetal leukocytes and placental tissue was very low",
"CTH values were within the control range",
"alpha-Gal activity ranged from intermediate to near normal",
"enzyme activity in fetal leukocytes was significantly d... | [
"Placenta B showed no storage material at all"
] |
fabry:16564807 | Corneal and conjunctival manifestations in Fabry disease: in vivo confocal microscopy study. | [
"To describe the microscopic corneal and conjunctival findings in patients with Fabry disease (FD) related keratopathy by using in vivo confocal microscopy.",
"Prospective observational case series.",
"Twelve eyes of six patients affected by Fabry disease, belonging to two different families, underwent in vivo ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To describe the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n microscopic corneal and conjunctival findings\n <span style=\"font-size: 0.8em; font-weigh... | [
"Fabry disease (FD) related keratopathy",
"Fabry disease",
"FD-related cornea verticillata",
"FD-"
] | [
"hemizygous",
"heterozygous",
"hemizygous",
"hemizygous",
"heterozygous patients"
] | [
"microscopic corneal and conjunctival findings",
"corneal epithelial changes",
"Stromal increased reflectivity attributable to haze",
"epithelial ingrowth",
"conjunctival epithelial involvement",
"appearing more pronounced in tarsal than in bulbar conjunctiva",
"structural alterations throughout the ent... | null | null | null | null |
fabry:16550865 | [Otology manifestations of the Anderson-Fabry disease]. | [
"Anderson-Fabry disease in an inherited X-linked metabolic disorder involving glycosphingolipid metabolism. Few data are available regarding cochlear involvement. Clinical manifestations of Fabry disease appeared on the first decade of life. The prognosis of males with Fabry disease is serious and life expectancy 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 Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"metabolic disorder",
"glycosphingolipid metabolism",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"inherited X-linked",
"heterozygous"
] | [
"cochlear involvement",
"progressive hearing loss",
"tinnitus",
"dizinness",
"unilateral hearing loss on high-tone frequencies"
] | [
"early enzyme replacement therapy intervention"
] | null | null | [
"without a risk of ototoxicity, or acoustic trauma"
] |
fabry:16533976 | Later-onset Fabry disease: an adult variant presenting with the cramp-fasciculation syndrome. | [
"Classic Fabry disease, an X-linked recessive lysosomal storage disease due to the deficient activity of alpha-galactosidase A, typically presents in early childhood with acroparesthesias, angiokeratomas, hypohidrosis, and corneal dystrophy. The neuropathic pain presumably results from glycosphingolipid accumulatio... | [
"<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 Classic Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Classic Fabry disease",
"lysosomal storage disease",
"Fabry",
"Fabry disease",
"later-onset Fabry disease"
] | [
"X-linked recessive",
"missense A143T mutation"
] | [
"acroparesthesias",
"angiokeratomas",
"hypohidrosis",
"corneal dystrophy",
"neuropathic pain",
"cardiac and/or renal disease",
"cramp-fasciculation syndrome",
"chronic exercise-induced pain",
"fasciculations",
"cramps of the feet and legs",
"cramps",
"fasciculations"
] | [
"enzyme replacement therapy"
] | null | [
"deficient activity of alpha-galactosidase A",
"residual alpha-galactosidase A activity",
"reduced plasma and leukocyte alpha-galactosidase A activities (8.8% and 13.4% of normal, respectively)"
] | [
"lack vascular endothelial involvement and classic symptoms",
"without small-fiber neuropathy",
"without apparent small-fiber neuropathy"
] |
fabry:16521018 | Progressive hearing loss in Fabry's disease: a case report. | [
"Fabry's disease is a chromosomal X-linked inherited disease, which causes a lack of the lysosomal alpha-galactosidase A enzyme leading to a cellular accumulation of glycosphingolipids. This accumulation leads to various clinical disorders, including inner ear lesions, with sensorineural hearing loss and dizziness.... | [
"<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"
] | [
"chromosomal X-linked inherited disease"
] | [
"inner ear lesions",
"sensorineural hearing loss",
"dizziness",
"inner ear associated problems"
] | null | null | [
"lack of the lysosomal alpha-galactosidase A enzyme"
] | null |
fabry:16518535 | Relief of left ventricular outflow obstruction by cibenzoline in a patient with Fabry's disease--a case report. | [
"A 46-year-old man was admitted for further evaluation of exertional chest discomfort. One family member had experienced sudden death, and 2 others had died of heart failure, including 1 known to have had Fabry's disease. The patient was also diagnosed with Fabry's disease, based on reduced leukocyte alpha-galactos... | [
"<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 46-year-old\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"
] | null | [
"exertional chest discomfort",
"marked left ventricular hypertrophy",
"systolic anterior motion of the mitral leaflets",
"left ventricular peak systolic outflow gradient of 50 mm Hg",
"this decreased to 10 mm Hg",
"left ventricular outflow obstruction"
] | [
"intravenous administration of 100 mg of cibenzoline"
] | null | [
"reduced leukocyte alpha-galactosidase A activity, 2.0 nmol/mg protein/hour"
] | null |
fabry:16510324 | Chiari type I malformation in four unrelated patients affected with Fabry disease. | [
"Fabry disease (FD) is an X-linked inborn error of metabolism resulting from the deficient activity of alpha-galactosidase A which leads to the widespread deposition of glycosphingolipids in lysosomes, and to ischemic complications involving kidneys, heart and brain. Among neurological symptoms, strokes and transie... | [
"<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",
"TIA",
"FD",
"CMI",
"CMI",
"Fabry"
] | [
"X-linked inborn error of metabolism",
"hemizygous male"
] | [
"ischemic complications involving kidneys, heart and brain",
"neurological symptoms",
"strokes",
"transient ischemic attacks (TIA)",
"sudden episode of dizziness",
"with disequilibrium",
"diplopia",
"Chiari type I malformation (CMI)"
] | null | null | [
"deficient activity of alpha-galactosidase A"
] | [
"no cerebrovascular involvement"
] |
fabry:25696603 | Unexplained left ventricular hypertrophy: consider a diagnosis of Fabry's disease. | [
"Lysosomal storage disorders are a group of disorders characterised by the deficiency of a specific lysosomal hydrolase. These diseases are rare, with only a few hundred patients in the Netherlands. Fabry's disease, an X-linked lysosomal storage disorder, is caused by a deficiency of the lysosomal enzyme α-galactos... | [
"<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\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Lysosomal storage disorders",
"Fabry's disease",
"lysosomal storage disorder",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked"
] | [
"left ventricular hypertrophy",
"renal failure",
"cerebrovascular events",
"left ventricular hypertrophy (LVH)",
"left ventricular hypertrophy",
"unexplained LVH",
"unexplained LVH"
] | null | null | [
"deficiency of a specific lysosomal hydrolase",
"deficiency of the lysosomal enzyme α-galactosidase A"
] | null |
fabry:16420782 | Fabry's disease as a differential diagnosis of MS. | [
"Fabry's disease is a genetically inherited error of glycosphingolipid metabolism that results from the defective activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA). The enzymatic defect, caused by an X-linked recessive genes, leads to progressive deposition of neutral glycosphingolipids (predomina... | [
"<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",
"error of glycosphingolipid metabolism"
] | [
"genetically inherited",
"enzymatic defect",
"caused by an X-linked recessive genes"
] | [
"Cerebrovascular manifestations",
"multifocal small-vessel involvement",
"thromboses",
"basilar arterial ischaemia and aneurysm",
"seizures",
"paroxystic hemiplegia",
"hemianaesthesia",
"vestibular disorders",
"frank cerebral haemorrhage",
"Severe neurological signs",
"multifocal small-vessel oc... | null | null | [
"defective activity of the lysosomal enzyme alpha-galactosidase A (alpha-GalA)"
] | [
"without evidence of major thrombosis"
] |
fabry:16415520 | An asymptomatic heterozygous female with fabry disease: implications for enzyme replacement therapy. | [
"We report an asymptomatic female with Fabry disease immunohistochemically diagnosed by renal biopsy. She was initially diagnosed as having nephrotic syndrome, and renal biopsy was performed for pathological diagnosis. The renal specimen revealed non-specific findings (minor glomerular abnormalities) for nephrotic ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n asymptomatic\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"subclinical Fabry"
] | null | null | [
"recombinant human alpha-galactosidase replacement therapy",
"enzyme replacement therapy"
] | null | null | [
"asymptomatic",
"initially diagnosed as having nephrotic syndrome",
"non-specific findings (minor glomerular abnormalities) for nephrotic syndrome",
"no other laboratory data or clinical findings"
] |
fabry:16403380 | Angiokeratoma corporis diffusum (Fabry disease). | [
"A 23-year-old man presented for cosmetic consultation for symmetrically distributed, red-to-purple, hyperkeratotic papules that had been present since early childhood. Histopathologic features included ectasia of upper dermal vessels with overlying hyperkeratosis. Serum alpha-galactosidase A level was diminished. ... | [
"<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 23-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | [
"x-linked recessive disorder"
] | [
"symmetrically distributed, red-to-purple, hyperkeratotic papules",
"ectasia of upper dermal vessels",
"overlying hyperkeratosis"
] | [
"multidisciplinary approach",
"initiation of enzyme replacement therapy"
] | null | [
"Serum alpha-galactosidase A level was diminished",
"deficiency of the lysosomal enzyme alpha-galactosidase A"
] | null |
fabry:16358237 | Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis. | [
"Anderson-Fabry disease is a rare inborn X-linked glycosphingolipid storage disorder in which the deficient activity of the enzyme alfa-galactosidase A (alfa-gal A) leads to the progressive tissular accumulation of lipidic molecules which, in turn, cause a protean pattern of multi-organ disfunction. Enzyme replacem... | [
"<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",
"glycosphingolipid storage disorder"
] | [
"rare inborn X-linked"
] | [
"protean pattern of multi-organ disfunction"
] | [
"Enzyme replacement therapy"
] | null | [
"deficient activity of the enzyme alfa-galactosidase A (alfa-gal A)"
] | null |
fabry:16350834 | Fabry disease--a diagnostic and therapeutic problem. | [
"The authors present a patient with Fabry syndrome that remained undiagnosed for several years. Fabry syndrome is a genetic disease related to changes on the X chromosome. Its complex clinical presentation and diverse symptomatology is caused by deficient activity of lysosomal hydrolase alpha-galactosidase enzyme. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors present a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry syndrome\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Fabry syndrome",
"Fabry syndrome",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"genetic disease",
"changes on the X chromosome",
"genetic change",
"genetic disease",
"hemizygous symptomatology"
] | [
"metabolic and genetic irregularity",
"generalized vasculopathy",
"multiorgan changes",
"asymmetric hypertrophy of the left ventricle",
"Cardiac complications",
"coronary disease",
"acute myocardial ischemia",
"death",
"Characteristic central nervous system symptoms",
"skin-burning sensation",
"... | [
"enrolled in the replacement therapy program"
] | null | [
"deficient activity of lysosomal hydrolase alpha-galactosidase enzyme",
"Defect in the basic alpha-galactosidase molecule",
"decreased alpha-galactosidase",
"asymptomatic proteinuria",
"microhematuria",
"level of alpha-galactosidase was significantly decreased",
"level of alpha-galactosidase enzyme in s... | [
"remained undiagnosed for several years",
"Clinical signs of renal failure were nonspecific"
] |
fabry:16315019 | Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement. | [
"We describe the postmortem findings of a 47-year-old man with Fabry disease, an X-linked glycolipid storage disorder, who was on enzyme replacement therapy with recombinant alpha-galactosidase A for more than 2 years. The patient had widespread atherosclerotic coronary artery disease that culminated in a massive a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n postmortem\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry disease",
"glycolipid storage disorder",
"glomerular nephropathy",
"Fabry disease"
] | [
"X-linked"
] | [
"widespread atherosclerotic coronary artery disease",
"massive acute myocardial infarction",
"Atherosclerotic lesions were seen in the right and left coronary systems, aorta, and the basilar artery",
"Typical Fabry cardiomyopathy",
"accelerated atherosclerosis"
] | [
"on enzyme replacement therapy with recombinant alpha-galactosidase A for more than 2 years",
"repeated infusions with alpha-galactosidase A over a prolonged period"
] | null | null | [
"did not appreciably clear storage material in cells other than vascular endothelial cells"
] |
fabry:16267800 | [Fabry nephropathy in a female with superposed IgA glomerulonephritis]. | [
"In Anderson-Fabry disease (AFd), the kidney is affected in all hemizygous males and in some heterozygous females. Female carriers can present subtle renal abnormalities due to glycosphingolipid (GSL) accumulation within renal cells. Renal biopsy is rarely performed in female Fabry patients because clinical renal m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \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; borde... | [
"Anderson-Fabry disease (AFd)",
"Fabry",
"Fabry disease",
"Fabry nephropathy",
"Fabry"
] | [
"all hemizygous males",
"heterozygous",
"missense mutation R227Q in exon 5 of the alpha-galactosidase A gene",
"heterozygous"
] | [
"subtle renal abnormalities",
"cornea \"verticillata\"",
"evident left ventricular hypertrophy"
] | [
"therapy with angiotensin-converting enzyme inhibitors (ACE-I)",
"8 months of treatment",
"treatment using enzyme replacement therapy (ERT) with human recombinant GAL A (Fabrazyme)",
"Fabrazyme was given at a standard dose of 1 mg/kg every 2 weeks",
"24 months of combined treatment (ACE-I-Fabrazyme)",
"ER... | null | [
"persistent microhematuria and proteinuria (about 1.7 g/24 hr)",
"proteinuria of 0.9 g/24 hr"
] | [
"clinical renal manifestations",
"absence of clinically evident kidney disease",
"normal glomerular filtration rate"
] |
fabry:16253723 | A comprehensive assessment of renal function in patients with Gaucher disease. | [
"Gaucher disease (GD) is caused by deficiency of acid beta-glucocerebrosidase and is the most common lysosomal storage disease. Patients may have massive hepatosplenomegaly, severe bone disease, and, occasionally, pulmonary or neurological involvement. Although other storage diseases, such as Fabry disease, frequen... | [
"<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 Gaucher disease (GD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Gaucher disease (GD)",
"lysosomal storage disease",
"storage diseases",
"Fabry disease",
"GD",
"GD",
"GD",
"diabetes mellitus",
"multiple myeloma",
"multiorgan",
"GD"
] | null | [
"massive hepatosplenomegaly",
"severe bone disease",
"pulmonary or neurological involvement",
"kidneys",
"renal abnormalities"
] | null | null | [
"deficiency of acid beta-glucocerebrosidase",
"urine electrolytes, total protein, and tubular proteinuria",
"GFR was",
"greater GFR",
"Significant proteinuria",
"Glomerular hyperfiltration"
] | [
"decreased renal function",
"No evidence of renal tubular abnormalities",
"kidney sonographic appearance and size were normal",
"not find renal abnormalities",
"subsequent decline in renal function"
] |
fabry:16221278 | Ventricular tachycardias and dilated cardiomyopathy caused by Fabry disease. | [
"Women with Fabry disease are considered to have a good prognosis. Here we report the clinical history of a female patient with severe Fabry disease before and after referral to our hospital. She was diagnosed to have a cardiac variant of Fabry disease since a left ventricular endomyocardial biopsy revealed specifi... | [
"<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 Women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Fabry disease",
"severe Fabry disease",
"cardiac variant of Fabry disease"
] | null | [
"cardiac involvement",
"sustained ventricular tachycardia",
"dilated cardiomyopathy"
] | [
"oral administration of amiodarone",
"cardiac defibrillator implant"
] | null | null | null |
fabry:16215932 | Novel GLA gene mutations in two Chinese families with classic Fabry disease. | [
"To search mutations in GLA gene in two Chinese families with classic Fabry disease.",
"Two families with Fabry disease confirmed by pathological and clinical studies were reported here. In pedigree 1, 12 family members had paroxysmal pain on limb extremities. In pedigree 2, there were 8 patients and most of them... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To search \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n mutations in GLA gene\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Fabry disease",
"classic Fabry disease"
] | [
"mutations in GLA gene",
"mutations in GLA gene",
"hemizygotes of novel GLA missense mutations",
"G132T (TGG-->TGT) mutation in exon 1, resulting in the substitution of amino acid from tryptophan to cysteine (W44C)",
"G874C (GCT-->CCT) mutation in exon 6, resulting in the substitution of amino acid from ala... | [
"paroxysmal pain on limb extremities",
"multi-organ involvement"
] | null | [
"Chinese",
"Chinese"
] | null | null |
fabry:16189631 | Significance of screening for Fabry disease among male dialysis patients. | [
"Fabry disease is an X-linked disorder resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A(alpha-Gal A). Renal insufficiency is a very important manifestation and affects the prognosis of patients. Recently, a renal variant type that is characterized by low plasma alpha-Gal A activity and a mi... | [
"<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",
"renal variant type",
"atypical variant of Fabry disease",
"classical Fabry",
"variant form of Fabry disease",
"atypical variant of Fabry",
"Fabry disease",
"Fabry disease"
] | [
"X-linked disorder",
"deletion of a single amino acid of valine in 10252."
] | [
"Renal insufficiency",
"end-stage renal failure",
"renal insufficiency",
"severe left ventricular hypertrophy"
] | [
"hemodialysis",
"dialysis",
"been on regular dialysis",
"dialysis"
] | [
"Japanese"
] | [
"deficiency of the lysosomal enzyme alpha-galactosidase A(alpha-Gal A)",
"low plasma alpha-Gal A activity",
"plasma alpha-Gal A activity",
"mean of the alpha-Gal A activity of",
"was 9.75 +/- 3.20 nmol/h/ml",
"were 0.52-1.04 nmol/h/ml",
"low alpha-Gal A activity in plasma (3.18 nmol/h/ml) and in leukocy... | [
"never been diagnosed with Fabry disease",
"did not present typical clinical signs of classical Fabry",
", such as acroparesthesias or hypohidrosis"
] |
fabry:16151910 | Successful pregnancy outcome in a patient with Fabry disease receiving enzyme replacement therapy with agalsidase alfa. | [
"Fabry disease is an inherited lysosomal storage disease caused by deficiency of alpha-galactosidase A. Enzyme replacement therapy for this multisystem progressive disease has been available only since 2001. We here report the first known successful pregnancy of a female patient receiving such therapy."
] | [
"<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",
"multisystem progressive disease"
] | [
"inherited"
] | null | [
"Enzyme replacement therapy",
"pregnancy",
"receiving such therapy"
] | null | null | null |
fabry:16149089 | Parkinsonism and Anderson Fabry's disease: a case report. | [
"We describe and present a videotape of a 57-year-old woman admitted to our Neurological Clinic at 46 years of age due to extrapyramidal manifestations suggesting Parkinson's disease (PD) and with a brain magnetic resonance imaging scan showing multi-infarctual leukoencephalopathy. Various investigations led to the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe and present a videotape 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 57-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Parkinson's disease (PD)",
"Anderson Fabry's disease (AFD)",
"parkinsonism",
"AFD"
] | null | [
"extrapyramidal manifestations",
"multi-infarctual leukoencephalopathy"
] | null | null | null | null |
fabry:16060871 | Fabry disease: an atypical presentation. | [
"Fabry disease is a rare X-linked recessive lysosomal storage disease. Patients typically have angiokeratomas distributed between the umbilicus and knees, painful crises of the hands and feet, and renal, ophthalmologic, and cardiac abnormalities. An 11-year-old boy presented with a 6-year history of widespread pete... | [
"<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"
] | [
"rare X-linked recessive"
] | [
"angiokeratomas distributed between the umbilicus and knees",
"painful crises of the hands and feet",
"renal, ophthalmologic",
"cardiac abnormalities",
"widespread petechial-like lesions",
"painful crises of the hands and feet",
"numerous erythematous, nonblanching pinpoint macules and rare papules with... | null | null | [
"markedly decreased alpha galactosidase A levels"
] | [
"sparing the area between the umbilicus and knees"
] |
fabry:16053014 | [Enzyme replacement therapy in Fabry's disease]. | [
"We report a 56-year-old man with history of chronic renal failure, who was diagnosed to have Fabry's disease after performing a percutaneous kidney biopsy. The diagnosis was confirmed by the deficient level of activity of alpha-galactosidase A and by the identification of the mutation. A enzime replacement therapy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 56-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry's disease"
] | [
"identification of the mutation"
] | [
"history of chronic renal failure",
"reduction in the impairment of renal function"
] | [
"enzime replacement therapy with alpha-galactosidase A",
"18 months of treatment"
] | null | [
"deficient level of activity of alpha-galactosidase A"
] | [
"did not evaluate the percentage of histologic clearance of the deposits",
"the classic manifestations of the disease are absent"
] |
fabry:16036875 | Ultrastructural study of renal involvement in two females with Anderson-Fabry disease. | [
"Anderson-Fabry disease (AFD) is a rare X-linked lipid storage disorder due to a deficient lysosomal a-galactosidase A (a-Gal) activity. In males with the classic form of the disease the enzymatic defect leads to progressive accumulation of glycosphingolipids (GL) in different organs, mainly in the kidney, heart, 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 Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"lipid storage disorder",
"AFD",
"AFD"
] | [
"rare X-linked",
"heterozygous"
] | [
"severe multisystem failure",
"severe cerebrovascular, renal, and cardiac manifestations",
"renal involvement",
"microvascular lesions",
"systemic disease"
] | null | null | [
"deficient lysosomal a-galactosidase A (a-Gal) activity",
"prothrombotic state",
"platelet activation"
] | [
"mild clinical symptoms"
] |
fabry:16027705 | Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. | [
"We report on 2 children with Fabry disease who had radiologic evidence of microvascular central nervous system involvement despite the clinical absence of renal, cardiac, or cerebral manifestations. This suggests that treatment with enzyme replacement therapy may be necessary early in the disease to avoid irrevers... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 2 \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n children\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry disease"
] | null | [
"radiologic evidence of microvascular central nervous system involvement",
"irreversible complications"
] | [
"treatment with enzyme replacement therapy"
] | null | null | [
"despite the clinical absence of renal, cardiac, or cerebral manifestations"
] |
fabry:16008696 | Fucosidosis with angiokeratoma. Immunohistochemical & electronmicroscopic study of a new case and literature review. | [
"Fucosidosis is a rare lysosomal storage disease due to alpha-L-fucosidase deficiency. It presents clinically with neurological, skeletal, and cutaneous findings, including mainly angiokeratoma corporis diffusum. Electronmicroscopic examination reveals characteristic electron-lucent cytoplasmic vacuolization presen... | [
"<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 Fucosidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ve... | [
"Fucosidosis",
"rare lysosomal storage disease",
"fucosidosis"
] | null | [
"neurological, skeletal, and cutaneous findings",
"angiokeratoma corporis diffusum",
"angiokeratoma"
] | null | null | [
"alpha-L-fucosidase deficiency"
] | null |
fabry:15962614 | [First Polish experience with enzyme replacement therapy in patients with Fabry disease]. | [
"We report here the course and outcomes of 18-month enzyme replacement therapy in two 43 and 41-year-old brothers with Fabry disease. At 18 months of recombinant alpha-galactosidase A (Fabrazyme) infusions, we observed in the older patient: weight gain, decreased proteinuria (from 4 to 1.5 g/d), stabilization of cr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report here the course and outcomes 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 18-month enzyme replacement therapy\n <span style=\"font-size: 0... | [
"Fabry disease"
] | null | [
"weight gain",
"much lower frequency and intensity of angina",
"weight gain",
"prolongation of PQ interval",
"improvement of hearing",
"neurologic manifestations deteriorated"
] | [
"18-month enzyme replacement therapy",
"18 months of recombinant alpha-galactosidase A (Fabrazyme) infusions"
] | null | [
"decreased proteinuria (from 4 to 1.5 g/d)",
"stabilization of creatinine clearance",
"stabilization of creatinine clearance and proteinuria"
] | [
"No serious infusion-related side effects"
] |
fabry:15947062 | Megadolichobasilar anomaly with thrombosis in a family with Fabry's disease and a novel mutation in the alpha-galactosidase A gene. | [
"Fabry's disease is an X-linked lysosomal storage disorder. alpha-Galactosidase deficiency leads to accumulation of globotriaosylceramide mainly in endothelial and smooth muscle cells. Cerebrovascular symptoms with predominant affection of the vertebrobasilar circulation are one of the major sources of morbidity in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 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",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked",
"new mutation in the alpha-galactosidase A gene (GLA)",
"c.47T-->C missense mutation resulting in L16P in the amino acid sequence of the alpha-galactosidase protein",
"L16P",
"-causing mutation"
] | [
"Cerebrovascular symptoms",
"predominant affection of the vertebrobasilar circulation",
"Megadolichobasilar anomaly",
"disturbance of the vertebrobasilar circulation",
"strongly dilated basilar artery",
"basilar strokes",
"large and elongated basilar arteries",
"megadolichobasilar anomaly",
"potenti... | [
"Early enzyme replacement therapy"
] | [
"Hungarian"
] | [
"alpha-Galactosidase deficiency"
] | [
"without thrombosis"
] |
fabry:15913175 | Bilateral femoral head and distal tibial osteonecrosis in a patient with Fabry disease. | [
"Fabry disease is a lysosomal storage disease caused by alpha-galactosidase A deficiency. The classic presentation of Fabry disease involves multiple organs, including kidneys, heart, skin, eyes, and nervous system. Osteonecrosis is rarely reported in patients with Fabry disease. In this article, we describe the ca... | [
"<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",
"Osteonecrosis",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"osteonecrosis"
] | [
"nonsense mutation (R227X) in the alpha-galactosidase A gene"
] | [
"involves multiple organs, including kidneys, heart, skin, eyes, and nervous system",
"osteonecrosis in both femoral heads and in an unusual site, bilateral distal tibiae"
] | [
"enzyme replacement therapy"
] | [
"white"
] | [
"alpha-galactosidase A deficiency"
] | [
"no risk factors for osteonecrosis"
] |
fabry:15909601 | Focal and segmental glomerular sclerosis (FSGS) in a man and a woman with Fabry's disease. | [
"We describe a man and a woman with Fabry's disease. Renal biopsies showed late and early stages respectively of focal and segmental glomerulosclerosis (FSGS) and vascular changes. Clinically the hemizygous patient had advanced renal disease with nephrotic range proteinuria and serum creatinine 122 micromol/l. The ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Fabry's disease",
"advanced renal disease",
"FSGS",
"Fabry's disease",
"FSGS",
"progressive renal disease",
"Fabry",
"FSGS",
"Fabry"
] | [
"hemizygous"
] | [
"late and early stages respectively of focal and segmental glomerulosclerosis (FSGS)",
"vascular changes",
"acroparesthesias",
"moderate fatigue",
"tinnitus",
"headache",
"ischemic cerebral lesions",
"vascular changes",
"vascular changes"
] | [
"Enzyme replacement therapy (ERT)",
"enzyme replacement therapy",
"ERT"
] | null | [
"nephrotic range proteinuria",
"minimal albuminuria",
"borderline GFR with a normal serum creatinine",
"subtle albuminuria",
"proteinuria of various levels"
] | null |
fabry:15909600 | Two unusual cases of Anderson-Fabry disease in a Japanese family. | [
"A 16-year-old Japanese girl was admitted to our hospital on February 27, 2001, for acute renal failure. She had not shown proteinuria or hematuria in any school examination through 2000. The first renal biopsy specimen showed focal segmental glomerulosclerosis and tubulointerstitial change. Electron microscopy sho... | [
"<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; ... | [
"Anderson-Fabry disease",
"nephrotic syndrome",
"Anderson-Fabry disease"
] | null | [
"acute renal failure"
] | [
"steroid therapy",
"chronic dialysis"
] | [
"Japanese"
] | [
"WBC alpha-galactosidase A, which was slightly decreased to 36.1 nmol/mg P/h (normal: 49.8 - 116.4)",
"WBC alpha-galactosidase A levels for other family members were 74.3 for the mother, 4.8 for the father, 45.6 for the elder sister, and 16.3 for the younger sister",
"proteinuria",
"low levels of WBC alpha-ga... | [
"not shown proteinuria or hematuria in any school examination"
] |
fabry:15875279 | [An unusual case of microhematuria]. | [
"Microhematuria is nearly always due to renal parenchymal or genito-urinary damage, with few exceptions. We report a case of microhematuria due to vascular anomaly. The diagnosis was realized making use of several imaging techniques."
] | [
"<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 Microhematuria\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"vascular anomaly"
] | null | [
"renal parenchymal or genito-urinary damage"
] | null | null | [
"Microhematuria",
"microhematuria"
] | null |
fabry:15861341 | Chronic renal failure and proteinuria in adulthood: Fabry disease predominantly affecting the kidneys. | [
"The prognosis of Fabry disease has changed since enzyme-replacement treatment was introduced. Therefore, early diagnosis is instrumental. We describe a family presenting with chronic renal failure and proteinuria in which classic skin and neurological features were absent and the diagnosis of Fabry disease was dif... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The prognosis 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; border... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"mutations as E66K",
"the kidneys"
] | [
"chronic renal failure",
"hypertension",
"acroparesthesia",
"hypohidrosis",
"pain",
"angiokeratomas of the skin",
"cornea verticillata",
"cancer-related findings",
"familial chronic renal failure"
] | [
"enzyme-replacement treatment"
] | null | [
"proteinuria",
"serum creatinine level of 1.3 mg/dL (115 micromol/L)",
"proteinuria",
"leukocyte alpha-galactosidase (alpha-GLA) A activity was decreased",
"proteinuria",
"proteinuria"
] | [
"classic skin and neurological features were absent",
"Fabry disease were absent",
"normal extrarenal findings",
"missed at autopsy"
] |
fabry:15859134 | [Clinical courses of two male siblings on hemodialysis for Fabry disease ]. | [
"Fabry disease is an X-linked recessive disease resulting from a deficiency of the lysosomal hydrolase alpha-galactosidase A. In male patients with the classic hemizygous form, acroparesthesias, hypohidrosis, corneal opacities, and dysfunction of the heart, brain, and kidney are observed. Recently, it was reported ... | [
"<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",
"end-stage renal disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive disease",
"classic hemizygous form"
] | [
"acroparesthesias",
"hypohidrosis",
"corneal opacities",
"dysfunction of the heart, brain, and kidney",
"acroparesthesias",
"hypohidrosis",
"mid-cerebral apoplexy",
"Remarkable left ventricular hypertophy",
"conduction disorders of the heart",
"ventricular-tachycardia",
"severe hypoxic brain dam... | [
"chronic hemodialysis (HD)",
"long-term HD",
"HD",
"maintenance HD",
"maintenance HD"
] | null | [
"alpha-galactosidase A activity"
] | null |
fabry:15857518 | Reduced coronary flow reserve in Anderson-Fabry disease measured by transthoracic Doppler echocardiography. | [
"Coronary flow reserve was assessed in a patient with Anderson-Fabry disease complicated by symmetric left ventricular hypertrophy. Coronary flow reserve was measurable in all three major coronary arteries providing an opportunity to compare regional coronary flow reserve from different vascular beds. In this 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 Coronary flow reserve\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Anderson-Fabry disease",
"Anderson-Fabry disease"
] | null | [
"symmetric left ventricular hypertrophy",
"Coronary flow reserve was measurable in all three major coronary arteries",
"all the three vascular beds supplied diffusely hypertrophied myocardium",
"Coronary flow disturbances in small intramyocardial perforating arteries",
"coronary flow reserve was reduced to ... | null | null | null | null |
fabry:15839990 | Fabry disease: percutaneous transluminal septal myocardial ablation markedly improved symptomatic left ventricular hypertrophy and outflow tract obstruction in a classically affected male. | [
"Fabry disease (alpha-galactosidase A deficiency) is an X-linked recessive lysosomal storage disease in which left ventricular hypertrophy (LVH) is common, and if severe, may mimic hypertrophic obstructive cardiomyopathy. Alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA) has been used as ... | [
"<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",
"hypertrophic obstructive cardiomyopathy",
"hypertrophic obstructive cardiomyopathy (HCM)",
"Fabry",
"symptomatic HCM"
] | [
"X-linked recessive"
] | [
"left ventricular hypertrophy (LVH)",
"LVH obstruction",
"NYHA class III with exertional angina",
"alleviated symptomatic left ventricular outflow tract obstruction",
"NYHA classification was reduced to NYHA class I to II"
] | [
"Alcohol-induced percutaneous transluminal septal myocardial ablation (PTSMA)",
"PTSMA"
] | null | [
"alpha-galactosidase A deficiency)"
] | null |
fabry:15818441 | Fabry disease. A case report. | [
"Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991. This 46 year-old male was referred for dermatologic evaluation of a purpura ... | [
"<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",
"angiokeratoma corporis diffusa",
"Fabry disease)",
"inherited disease"
] | [
"X-linked recessive"
] | [
"purpura on his abdomen",
"cardiac symptoms",
"cerebrovascular symptoms",
"coronary disease",
"renal failure",
"died",
"recurrent myocardial infarction",
"multi-manifestations"
] | [
"enzyme replacement therapy"
] | [
"Slovenia"
] | [
"deficient activity of the enzyme alpha-galactosidase A (alpha-Gal A)",
"proteinuria",
"deficient leukocyte alpha-Gal A activity"
] | null |
fabry:15792133 | Renal variant of Anderson-Fabry disease and bilateral renal cell carcinoma. | [
"Anderson-Fabry disease (AFd) is an X-linked metabolic disease with clinical manifestations secondary to accumulation of glycosphingolipids in various tissues. We report the first case in which a patient with renal variant of AFd and chronic renal failure developed bilateral conventional renal cell carcinoma. His m... | [
"<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)",
"metabolic disease",
"renal variant of AFd",
"bilateral conventional renal cell carcinoma",
"metabolic disorder",
"AFd"
] | [
"X-linked"
] | [
"chronic renal failure",
"tumoral lesion",
"chronic renal failure of unknown cause"
] | null | null | null | [
"no clear etiologic relation between the metabolic and neoplastic disease"
] |
fabry:15749195 | Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement. | [
"A 30 year-old male patient with a history of Fabry's disease, was referred to hospital with symptoms of dizziness, hypotension and weakness. Fabry's disease had been diagnosed 2 years before, based on angiokeratoma and hypohidrosis on physical examination and complete lack of alpha-galactosidase A on laboratory ex... | [
"<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 30 year-old\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"
] | null | [
"dizziness",
"hypotension",
"weakness",
"angiokeratoma",
"hypohidrosis",
"sinus bradycardia",
"mild AV conduction disturbances at a site proximal to His",
"cardiac symptoms",
"AV conduction abnormalities"
] | null | null | [
"complete lack of alpha-galactosidase A"
] | [
"poor response to atropine administration",
"Echocardiograms on admission and 2 years before were normal",
"normal echocardiograms"
] |
fabry:15729869 | Beta-mannosidosis with angiokeratoma corporis diffusum. | [
"Beta-mannosidosis is a lysosomal disorder which is caused by a deficiency of beta-mannosidase. This disorder was first described in goats. Twelve human cases have already been reported. We present the first case in Japan in whom the diagnosis was reached from angiokeratoma corporis diffusum. Futhermore, mental ret... | [
"<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 Beta-mannosidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Beta-mannosidosis",
"lysosomal disorder",
"beta-mannosidosis",
"beta-mannosidosis",
"lysosomal enzyme disorders"
] | null | [
"angiokeratoma corporis diffusum",
"mental retardation",
"hearing loss",
"renal failure",
"Pseudoxanthoma elasticum",
"angiokeratoma corporis diffusum"
] | null | [
"goats",
"Japan"
] | [
"deficiency of beta-mannosidase",
"activity level of beta-mannosidase in the patient's plasma was only 2% of the normal range",
"while that in the patient's mother was 40%"
] | null |
fabry:15712198 | Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. | [
"We present two sisters with a severe form of Fabry disease, who both carry the same mutation in the alpha-galactosidase A (alpha-gal A) gene (Q330X). Each of the sisters developed renal failure in the third decade of life; the older sibling underwent renal transplantation at 40 years of age. The severe phenotype o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present two \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n sisters with a severe form of Fabry disease\n <span style=\"font-size: 0.8em; font-weight: ... | [
"Fabry disease"
] | [
"preferential inactivation of the wild-type allele",
"paternal origin of the mutation",
"germline mosaicism",
"Both mutant and wild-type alleles were found in DNA isolated from father's sperm",
"germline mosaicism",
"mutation event during the embryonic development of sperm producing cells (spermatogonia)"... | null | null | null | null | [
"tested negative for the mutation Q330X in DNA isolated from peripheral leukocytes, mouth wash cells, and urinary sediment cells"
] |
fabry:15605079 | Chloroquine-induced lipidosis mimicking Fabry disease. | [
"Intracellular accumulation of phospholipids may be a consequence of inherited or acquired metabolic disorders. In Fabry disease, deficiency of alpha-galactosidase A results in storage of globotriasylceramide in numerous cells including endothelium, striated muscle (skeletal, cardiac), smooth muscle, and renal epit... | [
"<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 Intracellular accumulation of phospholipids\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry disease",
"rheumatoid arthritis",
"chloroquine toxicity",
"chloroquine toxicity"
] | [
"inherited",
"acquired metabolic disorders"
] | [
"muscle weakness",
"renal insufficiency",
"renal and muscle dysfunction greatly improved"
] | [
"Chloroquine therapy",
"treated with chloroquine",
"cessation of chloroquine"
] | null | [
"deficiency of alpha-galactosidase A"
] | [
"therapy was not emphasized",
"initial erroneous interpretation of Fabry disease",
"not present in renal cells"
] |
fabry:15564893 | Psychiatric findings in four female carriers of Fabry disease. | [
"Anderson-Fabry disease (AFD) is an X-linked recessive disorder of glycosphingolipid metabolism. Most female carriers are clinically symptomatic; however, psychiatric diagnoses have not been reported in this population. We describe four female carriers of AFD disease who met DSM-IV criteria for major depression. Al... | [
"<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)",
"disorder of glycosphingolipid metabolism",
"psychiatric diagnoses",
"AFD disease",
"major depression",
"depression",
"AFD"
] | [
"X-linked recessive"
] | [
"above 26 on the Hamilton Rating Scale for Depression",
"severe depression",
"Excessive guilt",
"fatigue",
"occupational difficulty",
"suicidal ideation",
"depressed mood",
"psychiatric complications"
] | [
"multidisciplinary approach",
"psychotherapy"
] | null | null | [
"symptoms of AFD disease"
] |
fabry:15492942 | A novel alpha-galactosidase a mutant (M42L) identified in a renal variant of Fabry disease. | [
"A 65-year-old man presented to our institution for workup of proteinuria. His serum creatinine level was 1.7 mg/dL (130 micromol/L), and he had proteinuria with protein of almost 5 g/24 h. Fabry disease was diagnosed by means of kidney biopsy and low serum and leukocyte levels of alpha-galactosidase A. Review of h... | [
"<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 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"novel missense mutation (M42L) in exon 1. Methionine at codon 42 is highly conserved in eukaryotic alpha-galactosidase A orthologues",
"genotype predicts a minor misfolding of alpha-galactosidase A because of a small difference in hydrophobicity between methionine and leucine"
] | [
"renal function continued to decline",
"predominantly renal manifestations",
"renal dysfunction"
] | [
"underwent a living unrelated renal transplantation",
"transplantation"
] | null | [
"proteinuria",
"serum creatinine level was 1.7 mg/dL (130 micromol/L)",
"creatinine level is 1.7 mg/dL (130 micromol/L)",
"corrected iothalamate clearance is 53 mL/min/1.73 m2",
"very low, but detectable, serum level of alpha-galactosidase A (0.002 U/L; normal range, 0.016 to 0.2 U/L)"
] | [
"did not show other findings typical of this disease"
] |
fabry:15389653 | Neuropathy and Fabry's disease. | [
"Fabry's disease is a multisystem disorder that is commonly associated with a painful, debilitating neuropathy. The common coexistence of arthralgias and an elevated erythrocyte sedimentation rate may lead to the misdiagnosis of a rheumatic condition. We report a 38-year-old man who was evaluated for progressive ne... | [
"<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",
"multisystem disorder",
"rheumatic condition",
"presumed juvenile rheumatoid arthritis",
"Fabry's disease"
] | null | [
"painful, debilitating neuropathy",
"arthralgias",
"progressive neuropathy",
"limb pain",
"longstanding arthralgias"
] | [
"past renal transplantation",
"enzyme replacement therapy that may slow progression and preserve the transplanted kidney"
] | null | [
"elevated erythrocyte sedimentation rate"
] | null |
fabry:15371935 | Effect of enzyme-replacement therapy on gastrointestinal symptoms in Fabry disease. | [
"Fabry disease is an X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal alpha-galactosidase A. The disease affects not only kidney, myocardium, central nervous system and the skin but also, in many patients, the gastrointestinal tract. The recent advent of enzyme-replacement therapy has... | [
"<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 recessive"
] | [
"kidney, myocardium, central nervous system and the skin",
"gastrointestinal tract",
"cardiomyopathy, renal function",
"autonomous nervous function",
"gastrointestinal symptoms",
"remarkable improvement of diarrhoea and constipation",
"Abdominal pain",
"the feeling of fullness",
"meteorism improved"... | [
"enzyme-replacement therapy",
"Enzyme replacements",
"enzyme-replacement"
] | null | null | [
"metoclopramide, which previously had been used regularly, could be discontinued"
] |
fabry:15370707 | Enzyme replacement therapy in severe Fabry disease with renal failure: a 1-year follow-up. | [
"We present here the course of clinical response of a 53-year-old haemodialysed Fabry patient who received recombinant human alpha-galactosidase A at a dose of 1 mg/kg every other week over a period of 1 year. The therapy was well tolerated by the patient, who revealed an impressive favourable cutaneous, gastrointe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present here the course of clinical response of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 53-year-old\n <span style=\"font-size: 0.8em; font-we... | [
"Fabry"
] | null | [
"impressive favourable cutaneous, gastrointestinal, neurological and psychiatric response",
"dramatic improvement in his quality of life"
] | [
"haemodialysed",
"received recombinant human alpha-galactosidase A at a dose of 1 mg/kg every other week over a period of 1 year"
] | null | null | [
"no improvement in cardiac and renal function"
] |
fabry:15353880 | Fabry disease female proband with clinical manifestations similar to hypertrophic cardiomyopathy. | [
"Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism, resulting from a deficiency in alpha-galactosidase A (alpha-Gal A). A 56-year-old Japanese woman was at first suspected of having hypertrophic cardiomyopathy. The patient and her son had alpha-Gal A activity in leukocytes that was remarka... | [
"<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",
"hypertrophic cardiomyopathy",
"Fabry's disease"
] | [
"X-linked inborn error of glycosphingolipid catabolism",
"novel missense mutation at codon 19 in exon 1, resulting in leucine-to-proline substitution",
"Fabry heterozygote",
"genetic abnormalities",
"heterozygotes"
] | [
"cardiac hypertrophy",
"hypertrophy"
] | [
"enzyme replacement therapy"
] | [
"Japanese"
] | [
"deficiency in alpha-galactosidase A (alpha-Gal A)",
"alpha-Gal A activity in leukocytes that was remarkably below the limit of controls",
"alpha-Gal A activity"
] | null |
fabry:15337151 | Intermittent claudication -- atypical presentation, diagnosis and treatment. | [
"A unique case of a man with Fabry's disease and associated small vessel vasculopathy manifesting as recurrent episodes of intermittent claudication is described. The case highlights the concept that microvascular involvement due to local accumulation of glycosphingolipid in the smooth muscle fibres of vessel walls... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A unique 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 man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Fabry's disease"
] | null | [
"small vessel vasculopathy",
"recurrent episodes of intermittent claudication",
"microvascular involvement",
"claudicant symptoms",
"macrovascular insufficiency"
] | null | null | null | null |
fabry:15297807 | Comparative in vitro expression study of four Fabry disease causing mutations at glutamine 279 of the alpha-galactosidase A protein. | [
"Fabry disease is an X-linked lysosomal storage disorder caused by the deficiency of alpha-galactosidase A that results in the accumulation of neutral sphingolipids. We report a novel point mutation in exon 6, Q279K, carried by an asymptomatic child with a family history of classic Fabry disease. Moreover, we compa... | [
"<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"
] | [
"X-linked",
"novel point mutation in exon 6, Q279K",
"Q279K",
"mutants in glutamine 279",
"Q279K",
"Q279H",
"Q279R",
"Q279E mutant represented 10% of wild type value",
"Q279K and Q279H",
"Q279R mutant",
"novel Q279K mutation"
] | null | null | null | [
"deficiency of alpha-galactosidase A",
"residual enzyme activity of",
"inactive 50-kD precursor",
"alpha-galactosidase A precursor of 50 kD but not the processed form"
] | [
"expressed no activity"
] |
fabry:15243806 | Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease. | [
"Fabry disease is an X-linked disorder of glycosphingolipid metabolism resulting from a deficiency of the lysosomal enzyme alpha-galactosidase A. This leads to the progressive accumulation of glycosphingolipids in lysosomes of most visceral tissues and in body fluids. Following successful clinical trials in adults,... | [
"<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",
"disorder of glycosphingolipid metabolism",
"Fabry disease"
] | [
"X-linked"
] | [
"rapid improvement in all the clinical and biochemical parameters",
"pain scores had improved",
"subjective clinical improvement",
"objective biochemical findings"
] | [
"recombinant enzyme preparations of alpha-galactosidase",
"treated with enzyme replacement therapy (agalsidase beta, Fabrazyme), 1 mg/kg for 2 years",
"dose of enzyme was increased to 2 mg/kg at 74 weeks of therapy",
"enzyme replacement therapy"
] | null | [
"levels of globotriaosylceramide in plasma and urine",
"levels of globotriaosylceramide in plasma and urine, although lower than before treatment, were still considerably elevated"
] | [
"no measurable clinical improvement",
"no evidence of blocking or neutralising antibodies",
"not accompanied by any reduction in the plasma or urine globotriaosylceramide levels"
] |
fabry:15136691 | Neurologic manifestations of Kanzaki disease. | [
"We describe the neurologic findings in a patient with alpha-N-acetylgalactosaminidase deficiency (Kanzaki disease). Clinical and electrophysiologic studies revealed sensory-motor polyneuropathy, and sural nerve pathology showed decreased density of myelinated fibers with axonal degeneration. The patient had mildly... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the neurologic findings in a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n alpha-N-acetylgalactosaminidase deficiency\n <span s... | [
"Kanzaki disease)",
"Kanzaki disease"
] | null | [
"sensory-motor polyneuropathy",
"mildly impaired intellectual function",
"abnormal brain MRI",
"sensory-neuronal hearing impairment",
"repeated episodes of vertigo attacks",
"neurologic complications in the CNS and peripheral nervous system"
] | null | null | [
"alpha-N-acetylgalactosaminidase deficiency"
] | null |
fabry:15085421 | The co-existence of Fabry and celiac diseases: a case report. | [
"We present a patient with Fabry disease with remarkable diagnostic findings and gluten-sensitive enteropathy. An 11-year-old girl was admitted to hospital with weight loss, anorexia, nausea, vomiting, flank pain, acroparesthesia, and painful extremities. Her mother had end-stage renal failure secondary to Fabry di... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Fabry disease",
"gluten-sensitive enteropathy",
"Fabry disease",
"gluten-sensitive enteropathy",
"Fabry disease occurring with gluten-sensitive enteropathy"
] | [
"heterozygous"
] | [
"weight loss",
"anorexia",
"nausea",
"vomiting",
"flank pain",
"acroparesthesia",
"painful extremities",
"growth retardation",
"characteristic whorl-like corneal opacities",
"painful attacks",
"vomiting",
"nausea",
"subtotal villous atrophy",
"gastrointestinal symptoms completely disappear... | [
"treatment with a gluten-free diet",
"enzyme replacement therapy"
] | null | [
"low alpha-galactosidase A (alpha-gal A) activity",
"positive serum anti-endomysium and anti-gliadin antibodies",
"proteinuria appeared"
] | [
"treated with carbamazepine",
"asymptomatic"
] |
fabry:15077869 | A nonsense mutation (R220X) in the alpha-galactosidase A gene causes typical Fabry disease in both genders. | [
"Fabry disease is an X-linked recessive disorder resulting from a deficiency of lysosomal alpha-galactosidase A (alpha-Gal A). Chronic renal failure is an important cause of death in patients with Fabry disease. We report on patients with Fabry disease (a hemizygous male and his mother) due to a nonsense mutation (... | [
"<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"
] | [
"X-linked recessive disorder",
"hemizygous male",
"nonsense mutation (R220X) in the alpha-Gal A gene",
"C-T transition at codon 220, resulting in substitution of the predictable termination for arginine (R220X)",
"nonsense mutation (R220X) in the alpha-Gal A gene"
] | [
"Chronic renal failure",
"death",
"renal and cardiac manifestations"
] | null | null | [
"deficiency of lysosomal alpha-galactosidase A (alpha-Gal A)"
] | null |
fabry:15038481 | Fabry's disease presenting as stroke in a young female. | [
"Fabry's disease is an X-linked disorder, caused by a deficiency of the lysosomal enzyme alpha-galactosidase A which results in the accumulation of the glycosphingolipid, ceramide trihexose in the vascular endothelium and can lead to cerebral infarction. Male hemizygotes are generally more severely affected than he... | [
"<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",
"Fabry's disease"
] | [
"X-linked disorder",
"hemizygotes",
"heterozygote",
"unequal X chromosome inactivation",
"Inherited",
"genetic abnormalities"
] | [
"cerebral infarction",
"neurological deficits",
"basal ganglia and pontine infarction",
"stroke",
"stroke"
] | null | null | [
"deficiency of the lysosomal enzyme alpha-galactosidase A"
] | [
"previously well",
"Extensive cardiac, arterial and hematologic investigations did not identify the etiology of her stroke",
"etiologic diagnosis is not reached after complete investigations"
] |
fabry:15030345 | Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion. | [
"Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who... | [
"<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 Generalized angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"lysosomal storage disorders",
"Fabry disease (alpha-galactosidase A deficiency)",
"Fabry disease"
] | null | [
"Generalized angiokeratoma"
] | [
"supplementation of recombinant enzyme"
] | null | null | [
"erroneously diagnosed with Fabry disease"
] |
fabry:15025723 | The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. | [
"Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an indiv... | [
"<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",
"AFD",
"severe debilitating diseases",
"AFD"
] | [
"X-linked disorder"
] | [
"symptoms classified as severe"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"agalsidase alfa ERT",
"One year of ERT with agalsidase alfa"
] | null | null | [
"AFD was excluded"
] |
fabry:14990611 | Acute myeloid leukaemia with t(8;21) associated with "occult" mastocytosis. Report of an unusual case and review of the literature. | [
"Approximately 20% of patients with systemic mastocytosis (SM) have an associated haematological, clonal, non-mast cell lineage disease, and most exhibit an associated myelogenous neoplasm. This report describes a 48 year old man with acute myeloid leukaemia (AML) and a type t(8;21) cytogenetic abnormality. Associa... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Approximately 20% of patients with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n systemic mastocytosis (SM)\n <span style=\"font-size: 0.8em; font-weigh... | [
"systemic mastocytosis (SM)",
"haematological, clonal, non-mast cell lineage disease",
"myelogenous neoplasm",
"acute myeloid leukaemia (AML)",
"of SM",
"mastocytosis",
"SM-AML"
] | [
"type t(8;21) cytogenetic abnormality",
"transforming somatic mutation D816V of the c-kit gene",
"D816V mutation"
] | null | [
"successful polychemotherapy",
"complete remission of AML"
] | null | [
"coexpression of tryptase, chymase, KIT, and CD25"
] | [
"bone marrow aplasia",
"compact mastocytic infiltrates were not detected"
] |
fabry:14713976 | [Intravenous enzyme substitution therapy in children with Fabry's disease]. | [
"Fabry's disease is a X-linked lysosomal storage disorder with accumulation of globotriaosylceramide primarily in vascular endothelial cells, affecting mainly skin, kidney, heart and brain. Symptoms may appear in 7-8-year-old children as burning pain in hands and feet; organ damage usually becomes evident in adult ... | [
"<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",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked",
"single-nucleotide deletion in position 10671 of the alfagalactosidase gene (GLA)"
] | [
"burning pain in hands and feet",
"organ damage",
"acroparesthesia",
"fever",
"abdominal pain",
"diarrhoea",
"slightly abnormal echocardiography",
"typical changes on cerebral MRI",
"clearly clinical improvement",
"no fever and diarrhoea",
"less pain",
"clinical improvement"
] | [
"Intravenous enzyme replacement therapy",
"Enzyme replacement therapy with alfagalactosidase A (Replagal)",
"one year of therapy",
"12 months of intravenous enzyme replacement therapy"
] | null | [
"high levels of urinary globotriaosylceramide",
"low levels of alfagalactosidase A in leukocytes",
"urinary excretion of globotriaosylceramide was reduced"
] | [
"No adverse effects",
"no adverse effects"
] |
fabry:14712441 | Fabry disease: renal involvement limited to podocyte pathology and proteinuria in a septuagenarian cardiac variant. Pathologic and therapeutic implications. | [
"In men with classical Fabry disease (alpha-galactosidase A [alpha-Gal A] deficiency), kidney failure occurs as early as the second decade of life. In contrast, men with the mild \"cardiac variant\" have late-onset cardiac involvement and proteinuria but usually do not have renal failure. To investigate the nature ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n men\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"classical Fabry disease",
")",
"mild \"cardiac variant",
"cardiac variant of Fabry disease",
"hypertensive arteriosclerosis",
"cardiac variant",
"Fabry disease"
] | [
"N215S missense mutation, the common lesion in cardiac variants"
] | [
"kidney failure",
"late-onset cardiac involvement",
"renal involvement",
"mild congestive heart failure",
"reduced left ventricular ejection fraction",
"hypercholesterolemia",
"angiokeratoma",
"acroparesthesias",
"corneal and lenticular opacities",
"hypohidrosis",
"early renal failure",
"late-... | [
"enzyme replacement therapy",
"aggressive treatment"
] | null | [
"alpha-galactosidase A [alpha-Gal A] deficiency",
"proteinuria",
"significant proteinuria",
"mildly decreased renal function (serum creatinine, 1.8 mg/dL [159 micromol/L])",
"about 4% residual alpha-Gal A activity in leukocytes",
"residual alpha-Gal A activity precludes glycosphingolipid deposition in the... | [
"not have renal failure",
"lacked the classical Fabry disease manifestations"
] |
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