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:14667257 | An unusual cause of dyspnea. | [
"The case of a 71-year-old woman who presented with dyspnea and palpitations is presented. Workup yielded a diagnosis of Fabry's disease, and the patient was referred for therapy. Fabry's disease is a disorder of glycosphingolipid metabolism and has forms that are limited to the myocardium. There is evidence that i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 71-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease",
"Fabry's disease",
"disorder of glycosphingolipid metabolism",
"Fabry's disease"
] | null | [
"dyspnea",
"palpitations",
"limited to the myocardium",
"cardiac hypertrophy",
"cardiac hypertrophy"
] | [
"therapy"
] | null | null | null |
fabry:14605848 | [Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family]. | [
"A 26-year-old female patient was admitted to the hospital because of fever of unknown origin and renal failure. Diagnosis of Fabry's disease, extracapillary proliferative (crescentic) glomerulonephritis and granulomatous interstitial nephritis was made by histological, immunohistochemical and electron microscopica... | [
"<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 26-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease",
"extracapillary proliferative (crescentic) glomerulonephritis",
"granulomatous interstitial nephritis",
"Fabry's disease",
"association with tubulointerstitial nephritis"
] | null | [
"fever of unknown origin",
"renal failure"
] | null | null | null | null |
fabry:14586228 | [Loss of visual acuity due to choroidal ischemia in Fabry's disease]. | [
"We report a case of a 21-year-old man with Fabry's disease who presented with a sudden decrease in visual acuity to 20/200 in the left eye. Pale areas with a lobular choroidal distribution were seen on fundus examination. No retinal vascular causes were found on further evaluation. With anticoagulation treatment, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a 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 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"sudden decrease in visual acuity to 20/200 in the left eye",
"Pale areas with a lobular choroidal distribution",
"visual recovery to 20/25",
"normalization of the funduscopic appearance",
"Recovery of both visual acuity and the pale, lobular areas",
"choroidal etiology",
"ischemic",
"sudden onset",
... | [
"anticoagulation treatment"
] | null | null | [
"No retinal vascular causes were found"
] |
fabry:12859541 | Fabry disease in a renal allograft. | [
"Incidental findings of rare diseases in organ donors can be seen in allograft biopsies that may have profound implications for the recipient and for the donor and their family. Fabry disease is an X-linked recessive lipid storage disease with cardiovascular, renal and lenticular abnormalities. Phenotypic expressio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Incidental findings 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 rare diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"rare diseases",
"Fabry disease",
"lipid storage disease",
"Fabry disease",
"ESRD",
"focal sclerosis"
] | [
"X-linked recessive",
"heterozygote carriers"
] | [
"cardiovascular, renal and lenticular abnormalities"
] | [
"transplanted kidneys",
"received a HLA-identical transplant from her sister",
"Post-transplant",
"pregnant",
"-transplant"
] | null | [
"increasing proteinuria",
"non-nephrotic range proteinuria"
] | [
"pretransplant donor work up was completely negative",
"normal serum creatinine"
] |
fabry:12811418 | [HbH disease--a rare differential diagnosis in a patient with anemia and abdominal pain]. | [
"A 45-year-old Vietnamese male was admitted to hospital with severe hypochromic anemia and acute abdominal pain. The peripheral blood smear showed extreme anisocytosis and poikilocytosis as well as teardrops and target cells. Hemoglobin electrophoresis and brilliant cresyl blue staining revealed hemoglobin H (HbH) ... | [
"<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 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hemoglobin H (HbH) disease with an infection-associated hemolytic crisis",
"HbH disease",
"special type of alpha-thalassemia",
"HbH disease"
] | null | [
"acute abdominal pain",
"hemolytic crises",
"infections",
"pregnancy"
] | [
"symptomatic treatment"
] | [
"Vietnamese",
"Eastern Asia"
] | [
"severe hypochromic anemia",
"extreme anisocytosis and poikilocytosis as well as teardrops and target cells",
"hemolytic and hypochromic anemia",
"mean corpuscular hemoglobin (MCH) < 25 pg"
] | null |
fabry:12796853 | Fabry disease: novel alpha-galactosidase A 3'-terminal mutations result in multiple transcripts due to aberrant 3'-end formation. | [
"Mutations in the gene that encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA), cause Fabry disease, an X-linked recessive inborn error of glycosphingolipid catabolism. Human alpha-GalA is one of the rare mammalian genes that has its polyadenylation signal in the coding sequence and lacks 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 Mutations in the gene that encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA)\n <... | [
"Fabry disease",
"inborn error of glycosphingolipid catabolism",
"classical Fabry disease",
"classical Fabry disease"
] | [
"Mutations in the gene that encodes the lysosomal exoglycohydrolase, alpha-galactosidase A (alpha-GalA)",
"X-linked recessive",
"Human alpha-GalA",
"rare mammalian genes",
"its polyadenylation signal in the coding sequence and lacks a 3' untranslated region (UTR)",
"novel frameshift mutations, 1277delAA (... | null | null | null | [
"cytosolic messenger RNA degradation pathway",
"levels of nuclear and cytoplasmic alpha-GalA mRNA"
] | null |
fabry:12778775 | Anderson-Fabry disease in Austria. | [
"Fabry disease is an X-linked inherited inborn error of glycosphingolipid catabolism. The deficiency of alpha-galactosidase A leads to the deposition of glycosphingolipids primarily in lysosomes of blood vessel cells. In classically affected hemizygotes clinical manifestations include pain in the extremities, vesse... | [
"<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"
] | [
"X-linked inherited inborn error of glycosphingolipid catabolism",
"hemizygotes"
] | [
"pain in the extremities",
"vessel ectasia (angiokeratoma) in skin and mucous membranes",
"ophthalmological abnormalities",
"hypohidrosis",
"renal, cardiac, cerebral and vascular involvement",
"renal insufficiency",
"cardiac hypertrophy",
"stroke",
"symptoms"
] | [
"enzyme replacement therapy",
"enzyme replacement therapy",
"maintained on renal replacement therapy"
] | [
"Austrian"
] | [
"deficiency of alpha-galactosidase A"
] | null |
fabry:12774774 | Renal involvement in Anderson-Fabry disease. | [
"Anderson-Fabry disease (AFd) is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of the activity of alpha-galactosidase A (alpha-gal A). The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident ... | [
"<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)",
"lisosomal storage disorder of glycosphingolipid (GL) metabolism",
"ESRF",
"systemic disease",
"ESRF",
"diabetic",
"ESRF"
] | [
"rare X-linked",
"hemizygous males",
"hemizygous males",
"Heterozygous"
] | [
"characteristic skin lesions (angiokeratomas)",
"neurological symptoms",
"acroparesthesia)",
"ocular features (cornea verticillata)",
"cardiac involvement",
"left ventricular enlargement",
"conduction abnormalities)",
"cerebrovascular manifestations (thromboses, hemorrhage, etc.)",
"kidney involveme... | [
"dialysis",
"kidney transplantation",
"kidney transplantation",
"dialysis",
"treatment with enzyme replacement infusion with purified alpha-Gal A,"
] | null | [
"deficiency of the activity of alpha-galactosidase A (alpha-gal A)"
] | [
"neither treatment modifies the progression of the cardiovascular and cerebrovascular lesions"
] |
fabry:12705499 | A novel 6 bp insertion in exon 7 associated with an unusual phenotype in a family with Fabry disease. | [
"A male patient presented with oligosymptomatic Fabry disease (end stage renal failure and non-obstructive cardiomyopathy) at around 30 years of age. His leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls. A 50-year-old sister had similar cardiac symptoms and her asymptomatic heterozygous daugh... | [
"<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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"oligosymptomatic Fabry disease",
"Fabry"
] | [
"novel, 6bp insertion on exon 7 of the AGAL gene",
"mutations in exon 7",
"common mutation on exon 6 (R301Q)"
] | [
"end stage renal failure",
"non-obstructive cardiomyopathy",
"neuropathic pain",
"oligosymptomatic phenotypes"
] | [
"recombinant enzyme therapy"
] | [
"Caucasian"
] | [
"leukocyte alpha-galactosidase activity (alpha-gal) was 2.6% of controls",
"residual alpha-gal below 1%"
] | null |
fabry:12685250 | [Atypical symptoms of Fabry's disease: sudden bilateral deafness, lymphoedema and Lown-Ganong-Levine syndrome]. | [
"A 40-year-old man with Fabry disease, confirmed by decreased leukocyte alpha-galactosidase A activity in 2001, complained of sudden bilateral deafness, as evidenced by clinical history and audiometry. Magnetic resonance of the brain revealed features typical of Fabry disease. Other clinical manifestations of the d... | [
"<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 40-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease"
] | null | [
"sudden bilateral deafness",
"angiokeratoma",
"lymphoedema of the lower limbs",
"pre-excitation syndrome",
"myocardial hypertrophy"
] | null | null | [
"decreased leukocyte alpha-galactosidase A activity",
"mild proteinuria"
] | [
"normal renal function"
] |
fabry:12673565 | Chloroquine-induced phospholipidosis of the kidney mimicking Fabry's disease: case report and review of the literature. | [
"A 46-year-old female patient with Sjögren's syndrome, hypertension, and stable chronic renal insufficiency (creatinine [CR], 1.9 to 2.1 mg/dL) had a progressive worsening of renal function (CR, 5.0 mg/dL) after 11 months of chloroquine therapy (155 mg/day; cumulative dose of approximately 51 g). Light microscopy r... | [
"<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; ... | [
"Sjögren's syndrome",
"chloroquine-associated deterioration of renal function",
"preexisting renal disease"
] | null | [
"hypertension",
"progressive worsening of renal function (CR, 5.0 mg/dL)",
"Adverse effects of chloroquine"
] | [
"11 months of chloroquine therapy (155 mg/day; cumulative dose of approximately 51 g)",
"discontinuation of chloroquine treatment"
] | null | [
"stable chronic renal insufficiency (creatinine [CR], 1.9 to 2.1 mg/dL)"
] | [
"Activity of alpha-galactosidase A was normal in isolated leukocytes (56 nmol/mg; range, 33.2 to 109 nmol/mg)",
"ruling out Fabry's disease"
] |
fabry:12666306 | [Fabry's disease associated with rheumatoid arthritis. Multisystemic crossroads]. | [
"Fabry's disease is a rare congenic disorder of glycosphingolipid catabolism resulting from deficient activity of the alpha galactosidasa. Is an X-linked disorder and in hemizygous males the activity of this enzyme is very low, resulting in severe manifestations. Fabry disease is confirmed by the lack alfa-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 Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"rare congenic disorder of glycosphingolipid catabolism",
"Fabry disease",
"coexistent Fabry's disease and connective disorders",
"rheumatoid arthritis coexistent",
"Fabry's disease",
"rheumatoid arthritis",
"multisystem",
"association between Fabry's disease",
"autoimmune disea... | [
"X-linked disorder",
"hemizygous males"
] | [
"severe manifestations",
"new symptoms",
"Fabry's disease"
] | null | null | [
"deficient activity of the alpha galactosidasa",
"activity of this enzyme is very low",
"lack alfa-galactosidase in serum",
"numerous pathogenic autoantibodies",
"immunocomplex"
] | null |
fabry:12639471 | Cutaneous variant of angiokeratoma corporis diffusum. | [
"A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 22-year-old patient presenting with normal physical and mental development is reported. ACD presenting with skin lesions alone is a rare but specific clinical entity, which differs from hereditary sphingolipidoses such as Fabry's disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n angiokeratoma corporis diffusum (ACD) involving the skin\n <span style=\"font-size: 0.8em; font-... | [
"ACD",
"hereditary sphingolipidoses",
"Fabry's disease"
] | null | [
"angiokeratoma corporis diffusum (ACD) involving the skin",
"skin lesions"
] | null | null | null | [
"normal physical and mental development"
] |
fabry:12630653 | First-degree atrioventricular block and restrictive physiology as cardiac manifestations of Fabry's disease. | [
"Fabry's disease is an X-linked disorder of glycosphingolipid catabolism related to the defective activity of glycosphingolipid, mainly ceramide trihexoside, in the vascular smooth muscle, myocardium, cells of the sympathetic central nervous system, and epithelial cells of renal glomeruli. We describe a young man w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"disorder of glycosphingolipid catabolism",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked"
] | [
"unusual electrocardiographic and echocardiographic patterns",
"left leg cellulitis",
"prolonged PR interval and a right bundle branch block pattern",
"restrictive physiologic pattern",
"pattern of electrocardiographic and echocardiographic characteristics",
"cardiac manifestations"
] | null | null | null | [
"no echocardiographic signs of septal or hypertrophic cardiomyopathy"
] |
fabry:12605057 | Oligosymptomatic cornea verticillata in a heterozygote for Fabry disease: a novel mutation in the alpha-galactosidase gene. | [
"Fabry disease is an X-linked genetic disorder involving sphingolipid catabolism, which is caused by lysosomal alpha-galactosidase A deficiency. Ophthalmological findings such as corneal and lens opacities and conjunctival and retinal vessel abnormalities can be the only and/or the first recognizable symptoms, espe... | [
"<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"
] | [
"X-linked genetic disorder",
"heterozygous",
"heterozygote for Fabry disease",
"heterozygous transition in position IVS5 + 2 T > C. Transition of thymine (T) to cytosine (C) affects the donor splice motive of exon 5 and most probably leads to an aberrant splicing procedure of the alpha-galactosidase A gene"
] | [
"Ophthalmological findings",
"corneal and lens opacities",
"conjunctival and retinal vessel abnormalities",
"cornea verticillata",
"ophthalmological findings"
] | null | [
"German"
] | [
"lysosomal alpha-galactosidase A deficiency",
"alpha-galactosidase A activity was determined in leukocytes",
"The alpha-galactosidase A activity in leukocytes was significantly low (0.24 nmol/min/mg protein; normal range, 0.4-1.2)"
] | null |
fabry:12487173 | Fabry disease with few clinical signs and symptoms. | [
"We describe a 25-year-old man with Fabry disease who remained undiagnosed until progressive renal involvement had begun, because of few clinical signs or symptoms except intermittent acroparesthesia. He had non-nephrotic proteinuria and normal renal function. Renal biopsy revealed focal and segmental glomerular sc... | [
"<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 25-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry disease",
"Fabry disease"
] | null | [
"progressive renal involvement",
"intermittent acroparesthesia"
] | [
"recombinant alpha-galA replacement therapy"
] | null | [
"non-nephrotic proteinuria",
"Alpha-galactosidase A (alpha-galA) activity was markedly decreased"
] | [
"remained undiagnosed",
"few clinical signs or symptoms",
"normal renal function"
] |
fabry:12482812 | Sisters with atypical Fabry's disease with complete atrioventricular block. | [
"A 56 year old woman with severe right heart failure and complete atrioventricular block was referred to hospital for further examination. Symptoms and signs suggestive of Fabry's disease, such as corneal opacities, acroparaesthesias, hypohidrosis, and angiokeratoma, were not noted. Echocardiography showed a diffus... | [
"<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 56 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",
"atypical Fabry's disease",
"Fabry's disease"
] | null | [
"severe right heart failure",
"complete atrioventricular block",
"corneal opacities",
"acroparaesthesias",
"hypohidrosis",
"angiokeratoma",
"diffuse hypertrophic left ventricular wall",
"paradoxical movement of the interventricular septum",
"restrictive-type ventricular dysfunction",
"complete atr... | null | null | null | [
"not noted"
] |
fabry:12480979 | Clinical features and genetic analysis of a Chinese kindred with Fabry's disease. | [
"Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme alpha-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. It is an uncommon disease in the Oriental population."... | [
"<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",
"classical Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked recessive inborn error of glycosphingolipid catabolism",
"missense mutation predicting a leucine to proline substitution (L14P) in the alpha-galactosidase gene",
"novel point mutation",
"novel genetic mutations"
] | [
"occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain",
"typical histological features"
] | null | [
"Oriental",
"Chinese",
"Chinese",
"Chinese"
] | [
"deficient activity of lysosomal enzyme alpha-galactosidase A",
"serum alpha-galactosidase A activity"
] | null |
fabry:12480957 | Enzyme replacement therapy in Anderson-Fabry's disease: beneficial clinical effect on vital organ function. | [
"Two recent randomized trials pointed out the beneficial effect of enzyme replacement therapy on biochemical parameters in patients with Anderson-Fabry's disease. Clinical end-points, such as amelioration or stabilization of renal function deterioration, or improvement of left ventricular hypertrophy have not been ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two recent randomized trials pointed out the beneficial effect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement therapy\n <span style... | [
"Anderson-Fabry's disease",
"Anderson-Fabry's disease"
] | null | [
"amelioration or stabilization of renal function deterioration",
"improvement of left ventricular hypertrophy",
"moderately impaired renal function",
"left ventricular hypertrophy tended to regress"
] | [
"enzyme replacement therapy",
"enzyme treatment",
"enzyme replacement therapy"
] | null | [
"biochemical parameters",
"moderately impaired renal function"
] | null |
fabry:12422475 | [Fabry disease: diagnostic due of substitutive enzyme-therapy]. | [
"Fabry disease is a X-linked sphingolipid storage disorder resulting from the defective activity of the lysosomal enzyme, alpha-galactosidase A. Hemizygotes develop severe multisystemic disease, dominated by renal failure and progressive neurological and cardiac involvement, causing premature death. Thirty percent ... | [
"<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",
"sphingolipid storage disorder",
"severe multisystemic disease"
] | [
"X-linked",
"Hemizygotes",
"heterozygotes"
] | [
"renal failure",
"progressive neurological and cardiac involvement",
"premature death",
"severe involvement of one or several organs"
] | null | [
"Switzerland"
] | null | null |
fabry:12366426 | Angiokeratoma corporis diffusum in a Spanish patient with aspartylglucosaminuria. | [
"Angiokeratoma corporis diffusum (ACD), initially considered to be synonymous with Fabry's disease, represents a well-known cutaneous marker of some other lysosomal enzyme disorders. Aspartylglucosaminuria (AGU) is a rare hereditary disorder mostly affecting the Finnish population, with only a few sporadic patients... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum (ACD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Fabry's disease",
"lysosomal enzyme disorders",
"Aspartylglucosaminuria (AGU)",
"AGU",
"bipolar psychosis",
"polycystic ovarian disease",
"AGU",
"polycystic ovarian disease",
"AGU"
] | [
"rare hereditary disorder"
] | [
"Angiokeratoma corporis diffusum (ACD)",
"cutaneous lesions of ACD",
"progressive ACD affecting the limbs, buttocks and trunk",
"progressive mental deterioration",
"coarse facies",
"macroglossia with a scrotal appearance",
"severe impairment of cognitive skills",
"cutaneous lesions of ACD",
"macrogl... | null | [
"Finnish",
"non-Finnish",
"Spanish",
"Spanish"
] | [
"decreased activity of aspartylglucosaminidase"
] | null |
fabry:12296419 | The ultrastructural study in a case of Fabry disease. | [
"An investigation of the ultrastructural study was conducted on specimens from a typical patient with Fabry disease. Numerous characteristic cytoplasmic inclusions were observed in the vascular endothelial cell, pericyte, smooth muscle cell, nerve and eccrine sweat glands, the lamellar pattern of which were conside... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An investigation of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ultrastructural study\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Fabry disease",
"Fabry disease"
] | null | [
"small blood vessels around the eccrine glands",
"decreased sweating ability",
"hypohidrosis"
] | null | null | null | null |
fabry:12235491 | Anderson-Fabry disease with cerebrovascular complications in two Italian families. | [
"We describe four patients with cerebrovascular complications from two unrelated Italian families with Anderson-Fabry disease. Clinical examination, neuroimaging (MRI), biochemical and genetic analyses were carried out in all the patients. Alpha-galactosidase A activity was detected by fluorimetric assay and geneti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe four 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 cerebrovascular complications\n <span style=\"font-size: 0.8em; font-weight... | [
"Anderson-Fabry disease",
"L-dopa-responsive parkinsonism",
"Anderson-Fabry disease",
"Anderson-Fabry disease"
] | null | [
"cerebrovascular complications",
"recurrent strokes",
"progressive renal failure",
"diplopia for a few days",
"recurrent strokes",
"left spastic hemiparesis",
"internuclear ophthalmoplegia",
"lacunar infarctions in the periventricular white matter, basal ganglia and pons",
"Lesions",
"stroke",
"... | [
"renal transplantation"
] | [
"Italian"
] | [
"Alpha-galactosidase A activity",
"albuminuria"
] | [
"without signs of renal involvement"
] |
fabry:12218896 | [Fabry's disease and hypoparathyroidism]. | [
"Fabry's disease is due to alpha-galactosidase deficiency. This rare lysosomal storage disease is transmitted by recessive X-linked heredity. Sphingolipids (galactosyl-glucosyl-ceramide) accumulate in many organs.",
"A 19-year-old man with known hypoparathyroidism presented with telangiectasia and angiokeratomas ... | [
"<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",
"rare lysosomal storage disease",
"Fabry's disease",
"Fabry's disease",
"Idiopathic hypoparathyroidism"
] | [
"transmitted by recessive X-linked heredity",
"genetic origin",
"disease can be recessive X-linked"
] | [
"telangiectasia and angiokeratomas on the buttocks, the hips, the hands and around the navel",
"paroxysmal pain in the hands and feet",
"diffuse abdominal pain",
"diarrhea",
"corneal telangiectasia",
"cornea verticella",
"hypoparathyroidism"
] | null | null | [
"alpha-galactosidase deficiency",
"hypoparathyroidism",
"very low levels of alpha-galactosidase"
] | [
"no kidney or heart involvement",
"Hypoparathyroidism",
"Fabry's disease"
] |
fabry:12218330 | Crescentic glomerulonephritis in a patient with heterozygous Fabry's disease. | [
"A 58-year-old woman who suffered from a heterozygous Fabry's disease and immune complex crescentic glomerulonephritis (GN) is reviewed. The diagnosis was made on the basis of the pathologic findings and peripheral leukocyte alpha-galactosidase activity. Light microscopy revealed a vacuolization of epithelial cells... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"heterozygous Fabry's disease",
"immune complex crescentic glomerulonephritis (GN)",
"combined Fabry's disease and crescentic glomerulonephritis"
] | null | [
"progressive renal failure"
] | null | null | [
"peripheral leukocyte alpha-galactosidase activity"
] | null |
fabry:12207598 | A novel A97P amino acid substitution in alpha-galactosidase A leads to a classical Fabry disease with cardiac manifestations. | [
"Fabry disease results from a genetic deficiency of alpha-galactosidase A (GLA) activity. Phenotype-genotype correlations in this condition have not as yet been fully elucidated.",
"To report a case of a male patient with classical Fabry disease and his mother, a heterozygous female with Fabry disease, showing 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",
"classical Fabry disease",
"classical Fabry disease"
] | [
"genetic deficiency of alpha-galactosidase A (GLA) activity",
"GLA gene mutation",
"The G-->C transversion was identified in codon 97 of the GLA gene and resulted in an A97P amino acid substitution that was a novel pathogenic GLA gene mutation",
"hemizygous",
"A97P amino acid substitution in GLA"
] | [
"cardiac involvement"
] | null | null | null | null |
fabry:12185177 | Neurological presentation of Fabry's disease in a 52 year old man. | [
"Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha galactosidase A. Previously unrecognised Fabry's disease presenting in a 52 year old man being investigated for progressive dysarthria and ataxia is discussed. Brain magnetic resonance imaging suggeste... | [
"<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",
"small vessel disease",
"cerebral autosomal dominant arteriopathy with subcortical infarcts",
"Fabry's disease"
] | [
"X linked inborn error of metabolism"
] | [
"progressive dysarthria",
"ataxia",
"unexplained cerebrovascular disease"
] | null | null | null | [
"and leucencephalopathy"
] |
fabry:12124877 | Avascular necrosis of the femoral head in a patient with Fabry's disease: identification of ceramide trihexoside in the bone by delayed-extraction matrix-assisted laser desorption ionization-time-of-flight mass spectrometry. | [
"Fabry's disease is a lipid storage disease caused by an X-linked hereditary deficiency of alpha-galactosidase. The enzymatic defect causes progressive deposition of ceramide trihexoside (CTH) in various tissues, leading to renal failure, premature myocardial infarction, and stroke, with a high rate of mortality 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",
"lipid storage disease",
"Fabry's disease",
"femoral head AVN",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked hereditary"
] | [
"renal failure",
"premature myocardial infarction",
"stroke",
"avascular necrosis (AVN) of the femoral head"
] | [
"total hip arthroplasty"
] | null | [
"deficiency of alpha-galactosidase"
] | null |
fabry:12123130 | [Foam cell nephropathy in heterozygous female with Fabry's disease]. | [
"We describe the clinical and pathological characteristics of a 49 year-old heterozygous female carrier of Anderson-Fabry's disease. Light microscopy and ultrastructural study of a renal biopsy showed the presence of foam cell nephropathy and galactosylceramide deposits affecting podocytes, the parietal epithelium ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the clinical and pathological characteristics 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 49 year-old\n <span style=\"font-size: 0.8e... | [
"Anderson-Fabry's disease",
"storage disease"
] | [
"heterozygous",
"heterozygotes"
] | [
"pathological deposits"
] | [
"adequate genetic counseling",
"enzyme replacement therapy"
] | null | null | null |
fabry:12110785 | Intermittent claudication unmasking underlying Fabry's disease. | [
"In a 53-year-old woman, admitted to our Department with leg pain, peripheral arterial occlusive disease (PAOD) was diagnosed. The absence of cardiovascular risk factors in this middle-aged woman, the unexplained burning pain during both effort and rest of the lower extremities mimicking severe ischemia, decreased ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"peripheral arterial occlusive disease (PAOD)",
"Fabry's disease",
"Fabry's disease"
] | null | [
"leg pain",
"unexplained burning pain during both effort and rest of the lower extremities",
"severe ischemia",
"decreased sweating",
"cold induced Raynaud's phenomenon",
"painful acroparesthesias",
"angiokeratomas",
"left ventricular hypertrophy (LVH)",
"corneal opacities",
"lenticular lesions",
... | null | null | [
"low serum levels of a-galactosidase-A activity"
] | [
"absence of cardiovascular risk factors"
] |
fabry:12072829 | [Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease]. | [
"Fabry's disease, also called angiokeratoma corporis diffusum universal, is a rare cause of stroke in the young. We report the case of a 39-year-old man who presented with relapsing vertebro-basilar ischemic strokes. Biological tests showed the presence of an aseptic meningitis and a biological inflammatory syndrom... | [
"<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",
"angiokeratoma corporis diffusum universal",
"aseptic meningitis",
"particularly progressive illness"
] | null | [
"stroke",
"relapsing vertebro-basilar ischemic strokes",
"biological inflammatory syndrome"
] | null | null | null | null |
fabry:12053080 | Renal transplantation in patients with Fabry disease. | [
"Anderson-Fabry disease (AFd) is a rare X-linked disorder characterized by deficiency of alpha-galactosidase A that leads to systemic accumulation of neutral glycosphingolipids, predominantly globotriaosylceramide (Gb3), in body fluids and visceral tissues, including the kidney. End-stage renal failure is a common ... | [
"<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)",
"End-stage renal failure",
"Fabry",
"AFd",
"Fabry",
"recurrence of AFd in the kidney graft",
"severe phenotype of the metabolic disease"
] | [
"rare X-linked disorder",
"hemizygous"
] | [
"improvement in clinical symptoms of the disease",
"died",
"cardiovascular complications related to the metabolic disease",
"loss of grafted kidney",
"rejection",
"thrombosis",
"sepsis",
"recurrence of the disease in the kidney graft",
"severe clinical form of the disease",
"progression to ESRF"
] | [
"transplanted",
"successful kidney graft",
"renal transplantation",
"renal transplantation"
] | null | [
"deficiency of alpha-galactosidase A",
"production of alpha-galactosidase A from the grafted kidney",
"increase in Gb3 clearance by the functioning kidney",
"correction of the uremic status",
"decrease in the production of Gb3 depending from hemolysis"
] | null |
fabry:11531972 | Co-occurrence and contribution of Fabry disease and Klippel-Trénaunay-Weber syndrome to a patient with atypical skin lesions. | [
"Fabry disease (FD) is an X-linked recessive inborn error of glycosphingolipid metabolism. Among clinical symptoms, maculopapular skin lesions, known as angiokeratoma, most often appear on the lower abdomen, scrotum, and thighs, with a tendency toward bilateral symmetry. A 30-year-old male patient was referred to u... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"Klippel-Trénaunay-Weber syndrome (KTWS)",
"association between FD and KTWS"
] | [
"X-linked recessive inborn error of glycosphingolipid metabolism",
"hemizygote for a missense mutation (R342Q) in the alpha-galactosidase A gene (GLA)"
] | [
"maculopapular skin lesions, known as angiokeratoma",
"appear on the lower abdomen, scrotum, and thighs",
"tendency toward bilateral symmetry",
"complex vascular and cutaneous malformation",
"numerous angiokeratoma, which had developed only on the right part of the body, with a sharp delineation in the midl... | null | null | [
"decreased alpha-galactosidase A activity"
] | [
"excluding the hypothesis of somatic mosaicism or revertant mosaicism",
"Karyotype analysis was normal"
] |
fabry:11475223 | [Cardiac manifestations in Fabry disease]. | [
"Fabry's disease is an X-linked inborn error of metabolism. The patients lack or have very low activity of the enzyme alpha-galactosidase A. This results in deposition of sphingolipids in endothelial cells and vascular smooth muscle cells; thus the disease can affect nearly every organ in the body. Renal failure is... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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"
] | [
"X-linked inborn error of metabolism"
] | [
"nearly every organ in the body",
"Renal failure",
"death",
"cardiac involvement",
"extensive electro- and echocardiographic findings",
"unexplained electro- and/or echocardiographic signs of left ventricular hypertrophy",
"short PQ interval in the ECG"
] | null | null | null | null |
fabry:11389713 | Echocardiographic ultrasonic tissue characterization in a case of Fabry's disease following renal transplantation. | [
"We report a case of Fabry's disease where stabilization of progressive cardiac involvement was recorded in a 29-yr-old Caucasian man, to our knowledge, for the first time by ultrasonic tissue characterization echocardiography after 1 yr of successful renal transplantation. Three echocardiographic evaluations have ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Fabry's disease"
] | null | [
"stabilization of progressive cardiac involvement",
"myocardial structural damage",
"integrated backscatter index",
"persistence of the impairment of intrinsic myocardial contractility at septum level",
"coexistent hypertensive status",
"alterations of myocardial textural parameters",
"ultrastuctural my... | [
"1 yr of successful renal transplantation",
"kidney transplantation",
"renal transplantation",
"replacement of alpha-galactosidase A through the transplanted kidney"
] | [
"Caucasian"
] | [
"enzymatic deficiency"
] | [
"cyclic variation index at posterior free wall, which is less dependent on strictly hemodynamic factors than the septum, appears quite normal"
] |
fabry:11362019 | Primary HIV-1 infection: diagnosis and prognostic impact. | [
"Acute infection with HIV is symptomatic in approximately two thirds to three-fourths of patients. This stage is defined as primary HIV infection or acute HIV illness. The diagnosis is crucial for public health because counseling can be provided to reduce the risk of transmission and for individual because early 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 Acute infection with HIV\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Acute infection with HIV",
"primary HIV infection",
"acute HIV illness",
"primary HIV infection",
"acute HIV infection"
] | null | [
"mild symptoms resembling classic mononucleosis infection",
"highly severe presentations",
"AIDS",
"death"
] | [
"counseling",
"early antiretroviral treatment",
"combined antiretroviral drugs"
] | null | null | null |
fabry:11316246 | A missense mutation, A156T, in the alpha-galactosidase A gene causes typical Fabry disease. | [
"Fabry disease is a rare but important cause of end-stage renal disease. Recent molecular investigations on alpha-galactosidase A (alpha-Gal A) have proven the existence of atypical variants in Fabry disease, making genotype assessment of each phenotype indispensable. We report here a missense mutation, which cause... | [
"<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",
"end-stage renal disease",
"Fabry disease",
"Fabry disease",
"typical Fabry disease"
] | [
"missense mutation",
"substitution of G to A in codon 156 of alpha-Gal A, resulting in a single amino acid change from alanine to threonine (A156T)",
"A156T",
"missense mutation, A156T, in the alpha-Gal A gene"
] | [
"acroparesthesias",
"hypohidrosis",
"left ventricular hypertrophy",
"renal involvement (proteinuria and renal insufficiency)",
"typical microscopic findings"
] | null | null | [
"extremely reduced plasma alpha-Gal A activity"
] | [
"no A156T noted in the 100 haplotypes"
] |
fabry:11279328 | Ventricular fibrillation refractory to automatic internal cardiac defibrillator in Fabry's disease. Review of cardiovascular manifestations. | [
"Fabry's disease is a disorder of glycosphingolipid metabolism leading to alpha-galactosidase deficiency with systemic sequelae. Clinical cardiac manifestations include dysrhythmias, structural abnormalities apparent on echocardiography, and histologic changes secondary to glycosphingolipid deposition. The introduc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"disorder of glycosphingolipid metabolism",
"Fabry's disease",
"Fabry's disease"
] | null | [
"systemic sequelae",
"cardiac manifestations",
"dysrhythmias",
"structural abnormalities apparent",
"echocardiography",
"histologic changes secondary to glycosphingolipid deposition",
"circulatory collapse",
"terminal arrhythmias",
"aborted sudden cardiac death",
"episode of ventricular fibrillati... | [
"automated internal cardiac defibrillators (AICD)",
"placement of an AICD",
"advanced life support"
] | null | [
"alpha-galactosidase deficiency"
] | [
"coronary angiography",
"without finding of obstructive disease",
"refractory to internal defibrillation"
] |
fabry:11251615 | Co-existence of lysosomal storage diseases in a consanguineous family. | [
"Lysosomal storage diseases are rare and coexistence of more than one in a family can present a diagnostic challenge as illustrated by this study. The index case born to consanguineous Asian parents presented with developmental delay. Investigations led to an incidental finding of Fabry disease. After numerous addi... | [
"<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",
"Fabry disease",
"aspartylglucosaminuria (AGU)",
"rare metabolic disease"
] | null | [
"developmental delay"
] | null | null | null | null |
fabry:11251574 | A new case of alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum, with Ménière's syndrome and without mental retardation. | [
"alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency is a rare hereditary lysosomal storage disease, and only three alpha-NAGA-deficient patients with angiokeratoma corporis diffusum (Kanzaki) have been described. We report a further case in a 47-year-old Japanese woman, the product of a consanguineous marriage... | [
"<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 alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"lysosomal storage disease",
"Kanzaki)",
"Kanzaki disease",
"Schindler disease"
] | [
"hereditary",
"novel point mutation (G-->A transition) at nucleotide 11018 (986 in the cDNA) resulting in an Arg-329-Gln substitution"
] | [
"angiokeratoma corporis diffusum",
"Ménière's syndrome",
"disturbance of peripheral sensory nerves",
"hearing loss",
"cardiac hypertrophy"
] | null | [
"Japanese"
] | [
"alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency",
"alpha-NAGA-deficient",
"alpha-NAGA enzyme activity in her plasma was 0.77% of the normal value"
] | [
"normal intelligence",
"Other enzyme activities, such as alpha-galactosidase, beta-galactosidase, alpha-L-fucosidase, beta-mannosidase and aspartylglucosaminidase, were within normal limits"
] |
fabry:11248839 | Histopathologic findings of cornea verticillata in a woman heterozygous for Fabry's disease. | [
"To report the histopathologic findings of the cornea verticillata observed in a woman who was heterozygous for Fabry's disease.",
"A 67-year-old woman was found to have a whorl-like corneal opacity on her visit to the Department of Ophthalmology. Aichi Saiseikai Hospital. Her visit was because of a sudden loss o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report 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 histopathologic findings of the cornea verticillata\n <span style=\"font-size: 0.8em; font-w... | [
"heterozygous Fabry's disease"
] | [
"heterozygous for Fabry's disease",
"heterozygous for Fabry's disease"
] | [
"histopathologic findings of the cornea verticillata",
"whorl-like corneal opacity",
"sudden loss of vision in her right eye",
"central retinal artery occlusion in association with an ophthalmic artery occlusion",
"died",
"acute heart failure",
"with the \"ridge\" in the central part of the cornea",
"... | null | null | [
"Low levels of alpha-galactosidase in the leukocytes"
] | [
"We were not able to determine"
] |
fabry:11200872 | Coexistence of Fabry's disease and necrotizing and crescentic glomerulonephritis. | [
"The coexistence of Fabry's disease, an X-linked hereditary disease, and other renal diseases, has rarely been described in the same patient. Combined Fabry's disease and pauci-immune necrotizing and crescentic glomerulonephritis (NCGN) is hitherto unreported. We present the clinical and pathologic data of two pati... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coexistence of Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"coexistence of Fabry's disease",
"renal diseases",
"Combined Fabry's disease and pauci-immune necrotizing and crescentic glomerulonephritis (NCGN)",
"combined Fabry's disease and NCGN"
] | [
"X-linked hereditary disease"
] | [
"fevers of unknown origin",
"progressive renal insufficiency",
"acroparesthesias",
"cutaneous angiokeratomas"
] | null | null | null | [
"lacked any other pathognomic signs of Fabry's disease",
"dyshidrosis"
] |
fabry:11149077 | [Atypical phenotype of Fabry disease. Evidence of a new mutation]. | [
"Fabry disease is a lysosomal disease resulting from deficient alpha galactosidase A activity. The enzyme's gene is situated on Xq22-1. Cardiac and cerebrovascular complications are usually observed late in the disease course.",
"A 54-year-old patient was admitted for ischemic stroke subsequent to thrombosis of t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal disease",
"Fabry disease",
"intermediary\" form of the disease"
] | [
"enzyme's gene is situated on Xq22-1",
"new mutation",
"mutations of the alpha galactosidase A gene"
] | [
"Cardiac and cerebrovascular complications",
"ischemic stroke",
"thrombosis of the right sylvian artery",
"hypertrophic cardiomyopathy that had progressed for 9 years",
"early onset",
"systemic manifestations",
"late-onset cardiomyopathy",
"late onset",
"predominant cardiac manifestations",
"limit... | null | null | [
"deficient alpha galactosidase A activity",
"alpha galacosidase A deficiency"
] | [
"no other systemic manifestations"
] |
fabry:11145098 | [Fabry disease: data from four families]. | [
"In 1988 three families were described in this journal with Fabry's disease, an X-linked recessive lysosomal storage disorder caused by the deficiency of alpha-galactosidase A. A fourth family contained four affected men of whom one was unavailable for evaluation. The other three had the same mutation in de alpha-g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 1988 three families were described in this journal 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's disease\n <span style=\"font-size: 0.8e... | [
"Fabry's disease",
"lysosomal storage disorder"
] | [
"X-linked recessive",
"mutation in de alpha-galactosidase gene, notably Gln386Stop, leading to the change of a glutamine codon into a stop codon",
"Met72Arg mutation"
] | [
"angiokeratomata",
"acroparaesthesias",
"hypohidrosis",
"lucid areas in the cornea"
] | null | null | null | null |
fabry:11105184 | Clinical features of and recent advances in therapy for Fabry disease. | [
"Fabry disease is an X-linked recessive lysosomal storage disorder caused by a deficiency of alpha-galactosidase A. Intracellular accumulation of globotriaosylceramide, the glycolipid substrate of this enzyme, leads to severe painful neuropathy with progressive renal, cardiovascular, and cerebrovascular dysfunction... | [
"<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"
] | [
"severe painful neuropathy",
"progressive renal, cardiovascular, and cerebrovascular dysfunction",
"early death",
"stroke",
"Physical stigmata",
"angiokeratomas in skin and mucous membranes",
"characteristic benign corneal abnormalities"
] | [
"Etiology-based therapies",
"enzyme replacement therapy",
"gene therapy",
"substrate deprivation",
"intravenous infusions of alpha-galactosidase A"
] | null | [
"marked decreased activity of alpha-galactosidase A in white blood cells or cultured skin fibroblasts"
] | [
"symptomatic only"
] |
fabry:11076046 | Identification of four novel mutations in five unrelated Korean families with Fabry disease. | [
"Fabry disease is a X-linked recessively inherited metabolic disorder, which results from the deficient activity of the lysosomal hydrolase alpha-galactosidase A leading to the systemic deposition of glycosphingolipids with terminal alpha-galactosyl moieties. Single-strand conformation polymorphism (SSCP) analysis ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"metabolic disorder",
"classic Fabry disease",
"Fabry disease"
] | [
"X-linked recessively inherited",
"nonsense mutations (Y86X and R342X)",
"missense mutation (D266N)",
"two small deletions (296del2 and 802del4)",
"R342X mutation",
"novel mutations (Y86X, D266N, 296del2, 802del4)",
"A T to G transversion at nucleotide position 5157 in exon 2 caused a tyrosine-to-stop s... | null | null | [
"Korean",
"Korean"
] | [
"deficient activity of the lysosomal hydrolase alpha-galactosidase A"
] | null |
fabry:10972099 | Angiokeratoma corporis diffusum (Anderson-Fabry's disease): a case report. | [
"We report on a 14-year-old boy who presented with a 4-year history of acral pains and febrile episodes. On physical examination, numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region. Renal function was within normal limits. Ophthalmological examination revea... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on 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 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"angiokeratoma",
"Fabry's disease",
"Fabry's disease"
] | null | [
"4-year history",
"acral pains",
"febrile episodes",
"numerous small reddish papules were present on his abdomen, located predominantly on the periumbelical region",
"whorled opacities of the cornea (cornea verticillata)",
"dilated tortuous conjunctival vessels",
"cutaneous papules",
"surrounded by co... | null | null | [
"presence of a alpha-galactosidase A deficiency in leukocytes"
] | [
"Renal function was within normal limits"
] |
fabry:10939539 | Atypical Fabry's disease presenting with cholesterol crystal embolization. | [
"We describe a 65-year-old man who presented with pulmonary hemorrhage and progressive renal insufficiency three months after resection surgery for an abdominal aortic aneurysm. Intensive treatment with corticosteroids and hemodialysis were not effective, and the patient died. Postmortem examination of the kidneys ... | [
"<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 65-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease",
"subclinical Fabry's disease",
"pulmonary-renal syndrome"
] | null | [
"pulmonary hemorrhage",
"progressive renal insufficiency",
"died",
"cholesterol crystal embolization"
] | [
"resection surgery for an abdominal aortic aneurysm"
] | null | null | [
"Intensive treatment with corticosteroids and hemodialysis were not effective",
"absence of plasma alpha-galactosidase A activity"
] |
fabry:10899253 | Induced sputum examination: diagnosis of pulmonary involvement in Fabry's disease. | [
"Fabry's disease is a rare inherited metabolic disorder caused by a deficiency in the enzyme alpha-galactosidase A. It can affect almost every organ, including the lungs. Confirmation of lung involvement has depended on invasive bronchial biopsy specimens or brushings to confirm the presence of typical lamellar inc... | [
"<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"
] | [
"rare inherited metabolic disorder"
] | [
"lung involvement"
] | null | null | null | null |
fabry:10828639 | A case of symptomatic heterozygous female Fabry's disease without detectable mutation in the alpha-galactosidase gene. | [
"We report a case of symptomatic heterozygous female Fabry's disease with low alpha-galactosidase blood activity. We could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit in our case."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n symptomatic heterozygous\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"symptomatic heterozygous",
"Fabry's disease"
] | null | null | null | null | [
"low alpha-galactosidase blood activity"
] | [
"could not find any mutations in the coding regions of either the signal peptide or the enzyme subunit"
] |
fabry:10746023 | [Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family]. | [
"The authors detected on necropsy in a 63-year-old woman with the clinical diagnosis of hypertension, atherosclerosis of the coronary and peripheral arteries, thromboembolism into the cerebral circulation and impaired cardiac conductivity lysosomal storage identified by histochemical and electronoptic analyses alon... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors detected on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n necropsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry's disease"
] | [
"point mutation L293X in the VIth exon of the appropriate gene",
"heterozygous state of Fabry's disease in preclinical stage"
] | [
"hypertension",
"atherosclerosis of the coronary and peripheral arteries",
"thromboembolism into the cerebral circulation",
"impaired cardiac conductivity",
"heart",
"cardiocyte hypertrophy"
] | null | null | [
"alpha-galactosidase A deficiency in the peripheral leucocytes"
] | [
"was not clinically diagnosed"
] |
fabry:10740422 | [Fabry's disease--late diagnosis in men with chronic nephropathy and skin changes]. | [
"We report a case of Fabry's disease, diagnosed in a 39-year-old patient treated for 4 years because of glomerulonephritis. The disease manifested itself by the presence of typical petechiae-like skin lesions in the bathing trunk area (angiokeratoma), eye changes, paresthesia, and--in additional investigations--mil... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Fabry's disease",
"glomerulonephritis",
"non-inflammatory character of Fabry's disease"
] | null | [
"typical petechiae-like skin lesions in the bathing trunk area (angiokeratoma)",
"eye changes",
"paresthesia",
"changes in the central nervous system"
] | [
"treated for 4 years"
] | null | [
"mild proteinuria",
"lowered creatinine clearance",
"marked decrease in leucocyte alpha-galactosidase activity"
] | [
"avoid an unnecessary immunosuppressive treatment"
] |
fabry:10589118 | [High-flow priapism in the pediatric age: review]. | [
"To review the literature on high flow priapism in children and analyze the etiology, pathophysiological mechanism, diagnostic tests, treatment and complications.",
"The literature is reviewed and an additional case of posttraumatic arterial priapism in an 11 year-old boy treated at our hospital is presented.",
... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To review the literature on \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n high flow priapism\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"sickle cell anemia",
"Fabry's disease",
"sickle cell anemia",
"Fabry's disease",
"sickle cell disease"
] | null | [
"high flow priapism",
"posttraumatic arterial priapism",
"high flow priapism",
"history of genitoperineal trauma",
"posttraumatic priapism",
"erectile function were good",
"Genitoperineal trauma",
"arterial priapism",
"High flow",
"priapism",
"Erectile function is recovered"
] | [
"pudendal arteriography with embolization",
"embolization"
] | null | null | [
"do not respond to conventional treatment"
] |
fabry:10462028 | Biopsy-proven cardiomyopathy in heterozygous Fabry's disease. | [
"A 23-year-old woman with heterozygous Fabry's disease who had acroparesthesia was admitted to hospital for precise examination of the disease before childbearing. She had no cardiac-related symptoms and no abnormality on physical examination. The alpha-galactosidase A activity in her leukocytes was present, but lo... | [
"<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; ... | [
"heterozygous Fabry's disease",
"Fabry's disease",
"heterozygous Fabry's disease",
"Fabry's disease"
] | [
"rare X-linked recessive inborn error of glycosphingolipid metabolism",
"heterozygous",
"hemizygous males"
] | [
"acroparesthesia",
"cardiac involvement",
"cardiac involvement"
] | null | null | [
"The alpha-galactosidase A activity in her leukocytes was present, but lower than normal"
] | [
"no cardiac-related symptoms",
"no abnormality on physical examination",
"asymptomatic",
"no cardiac abnormality on physiological examinations",
"asymptomatic"
] |
fabry:10456648 | Dynamic left ventricular arterial pressure gradient and sick sinus syndrome with heterozygous Fabry's disease improved following implantation of a dual chamber pacemaker. | [
"A 63-year-old woman with heterozygous Fabry's disease, sick sinus syndrome, sinus pauses, congestive heart failure, syncope, and a dynamic pressure gradient between the left ventricle and systemic arteries underwent implantation of a dual chamber (DDD) pacemaker. Following pacemaker implantation, the pressure grad... | [
"<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 63-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | [
"heterozygous Fabry's disease"
] | [
"sick sinus syndrome",
"sinus pauses",
"congestive heart failure",
"syncope",
"dynamic pressure gradient between the left ventricle and systemic arteries",
"pressure gradient has been reduced",
"congestive heart failure controlled for the past 3 years"
] | [
"implantation of a dual chamber (DDD) pacemaker",
"pacemaker implantation"
] | null | null | null |
fabry:10441995 | [A case of Fabry's disease with chronic renal failure]. | [
"Fabry's disease is a genetic disorder caused by the absence of alpha-galactosidase (alpha-Gal), the gene of which is carried on the long arm of the X chromosome. This enzymatic defect leads to an accumulation of glycosphingolipids in the plasma and lysosomes of endothelial, perithelial, and smooth muscle cells, es... | [
"<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",
"chronic renal failure",
"Fabry's disease"
] | [
"genetic disorder",
", the gene of which is carried on the long arm of the X chromosome",
"hemizygote of Fabry's disease",
"point mutation of a G to A transition in exon 1"
] | [
"renal deterioration",
"acroparesthesia",
"angiokeratoma",
"hypohidrosis",
"renal deterioration",
"stenotic change of the small arteries and arterioles",
"renal progressive deterioration",
"degenerative changes in the renal vessels",
"rapid deterioration in renal function"
] | null | null | [
"absence of alpha-galactosidase (alpha-Gal)",
"enzymatic defect",
"severe decreased alpha-Gal activity of his peripheral white blood cells",
"proteinuria",
"serum urea nitrogen of 65 mg/dl",
"creatinine value of 6.9 mg/dl",
"Urinary protein excretion was 3.9 g/day"
] | [
"normal renal function",
"urinary sugar was negative",
"without severe tubulo-interstitial damage"
] |
fabry:10427809 | Acute anterior forearm compartment syndrome following wrist arthrodesis. | [
"The authors report a case of anterior compartment syndrome in the forearm following total wrist arthrodesis via a dorsal approach. As far as they know this is the second case reported."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anterior compartment syndrome in the forearm\n <span style=\"font-size: 0.8em... | null | null | [
"anterior compartment syndrome in the forearm"
] | [
"total wrist arthrodesis via a dorsal approach"
] | null | null | null |
fabry:10412277 | The ultrastructural changes in renal biopsy compatible with Fabry's disease. Case report. | [
"The authors reported the accumulation of osmiophilic myelin-like bodies typical for Fabry's disease in the rebiopsied 19-year-old woman clinically presenting with intermittent mild microhematuria and trace proteinuria. The light microscopy examination of the first kidney biopsy specimen (10 years ago) showed the p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors reported 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 accumulation of osmiophilic myelin-like bodies typical for Fabry's disease\n <spa... | [
"storage diseases"
] | null | null | null | null | [
"intermittent mild microhematuria",
"trace proteinuria"
] | [
"was not performed",
"family history was negative for renal diseases",
"A biochemical enzymatic assay for alpha-galactosidase A was not performed"
] |
fabry:10412276 | Fabry's disease. Report of the case diagnosed on the basis of routine ultrastructural examination of the renal biopsy. | [
"A 45-year-old man who developed proteinuria was diagnosed as having Fabry's disease on the basis of renal histological findings and prominent decreases in alpha-galactosidase A activity in blood leukocytes."
] | [
"<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 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | null | null | null | null | [
"proteinuria",
"prominent decreases in alpha-galactosidase A activity in blood leukocytes"
] | null |
fabry:10411352 | Fifteen-year follow-up of a heterozygous Fabry's disease patient associated with pre-excitation syndrome. | [
"A 47-year-old woman with heterozygous Fabry's disease with pre-excitation syndrome has been followed up for 15 years. Diagnosis was confirmed by the typical electron microscopic feature of the endomyocardial specimen and a decreased plasma alpha-galactosidase activity. As the disease progressed, the interventricul... | [
"<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 47-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"heterozygous Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"pre-excitation syndrome",
"the interventricular septum thickened from 11 to 17 mm",
"AH interval was prolonged from 80 to 140 msec",
"PR interval",
"variable from short PR to AV block",
"AV conduction abnormalities"
] | null | null | [
"decreased plasma alpha-galactosidase activity"
] | null |
fabry:10389354 | Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy. | [
"A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and Sudan black positive perinuclear vacuoles, shown at electromicroscopy t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy\n <span style=\"font-si... | [
"cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy",
"hypertrophic cardiomyopathy",
"cardiac variant of Fabry's disease"
] | null | [
"long-standing atrial fibrillation"
] | [
"enzyme replacement therapy"
] | null | [
"low activity of alpha-galactosidase A in the peripheral lymphocytes"
] | [
"failed to determine deterioration of cardiac function"
] |
fabry:10069717 | Different phenotypic expression in relatives with fabry disease caused by a W226X mutation. | [
"Two male relatives with Fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. Fabry disease is an X-linked inborn error of glycosphi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Fabry disease",
"inborn error of glycosphingolipid metabolism",
"Fabry disease"
] | [
"X-linked",
"The alpha-Gal A gene is located at Xq22.1",
"private mutations"
] | [
"skeletal dysplasia"
] | null | null | [
"deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A) enzyme"
] | null |
fabry:10052049 | [Retinal pigment anomalies associated with Fabry's disease]. | [
"Fabry's disease is an X linked disease with ocular, skin and kidney lesions. We report a case which presented all the ophthalmologic signs and particular retinal manifestations.",
"Fabry's disease was suspected in a 18 year old young man, with angiokeratomes, attacks of pain located in fingers, toes and also 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",
"Fabry's disease"
] | [
"X linked disease",
"hemizygous",
"heterozygous"
] | [
"ocular, skin and kidney lesions",
"all the ophthalmologic signs",
"particular retinal manifestations",
"angiokeratomes",
"attacks of pain located in fingers, toes and also in the abdomen",
"ocular morphological findings",
"whorl-like corneal opacities",
"posterior spoke-like cataracts",
"tortuosity... | null | null | null | null |
fabry:9916266 | [Biochemical study of unusual cases of Fabry disease]. | [
"Fourteen members of family P. and four members of family N. were clinico-biochemically examined. Among twelve adult children (19-32 years old) of family P. five sons manifested angiokeratotic skin lesions and other clinical signs of Fabry disease. Three of the probands had additional symptoms not generally found i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Fourteen members of family P. and four members of family N. were \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n clinico-biochemically examined\n <span st... | [
"Fabry disease",
"atypical variant of Fabry disease"
] | null | [
"angiokeratotic skin lesions",
"clinical signs of Fabry disease",
"additional symptoms not generally found in Fabry disease",
"strong skin lesions"
] | null | null | [
"high residual alpha-galactosidase activity"
] | null |
fabry:9891901 | Retinal vein occlusion in a woman with heterozygous Fabry's disease. | [
"Fabry's disease is associated with high incidence of thrombosis in hemizygous males and heterozygous females. We describe a woman with Fabry's disease who developed hemi-central retinal vein occlusion during the follow-up. The vein occlusion showed a fulminant course ending with a painful blind eye within a short ... | [
"<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",
"vascular occlusive disorders"
] | [
"hemizygous males",
"heterozygous"
] | [
"thrombosis",
"hemi-central retinal vein occlusion",
"vein occlusion",
"fulminant course",
"painful blind eye"
] | null | null | null | null |
fabry:9793974 | Hybridization of chromosome 18 alpha-satellite DNA probe to chromosome 22. | [
"Fluorescence in situ hybridization (FISH) of uncultured chorionic villus diploid cells with a chromosome 18 alpha-satellite DNA probe (D18Z1) revealed a third small signal in addition to two large signals. FISH analysis of diploid metaphase cells from cultured chorionic villus cells and from maternal lymphocytes r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fluorescence in situ hybridization (FISH) of uncultured chorionic villus diploid cells\n <span style=\"fon... | null | [
"hybridization to the centromere of chromosome 22",
"variant involving D18Z1",
"inherited",
"insertion of chromosome 18 specific alpha-satellite DNA sequences into the centromeric region of chromosome 22"
] | [
"third small signal in addition to two large signals"
] | null | null | null | null |
fabry:9706432 | Coexistence of Fabry's disease and systemic lupus erythematosus. | [
"This report describes a case of a female with systemic lupus erythematosus, who was subsequently diagnosed with Fabry's disease. Due to similarities in the organs involved by these two multisystem disorders, difficulties were encountered in establishing a prompt diagnosis of Fabry's disease. That and subsequent ma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report describes a 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"systemic lupus erythematosus",
"Fabry's disease",
"Fabry's disease",
"coexistence of the two disorders"
] | null | [
"similarities in the organs involved by these two multisystem disorders"
] | null | null | null | null |
fabry:9693187 | Angiokeratoma corporis diffusum associated with galactosialidosis. | [
"We describe a 34-year-old Japanese man with generalized angiokeratomas and various neurological symptoms since childhood. A number of reddish papules were scattered over his entire body and were especially numerous on his elbows, knees, penis and scrotum. An electron-microscopic study revealed a number of vacuoles... | [
"<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 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | null | [
"mRNA splicing junction mutation at the 5' donor splice site of the exon 7/intron 7 junction in the protective protein gene"
] | [
"generalized angiokeratomas",
"various neurological symptoms",
"number of reddish papules were scattered over his entire body and were especially numerous on his elbows, knees, penis and scrotum",
"angiokeratomas"
] | null | [
"Japanese"
] | [
"deficiency of both the beta-galactosidase and neuramidase activity in his leukocytes and fibroblasts"
] | null |
fabry:9628980 | [Multiple Fordyce-type angiokeratomas of the scrotum. An iatrogenic case]. | [
"Angiokeratoma is a wart-like vascular lesion of the skin. There are five types of angiokeratoma: the Mibelli-type, the Fordyce-type, the solitary and multiple (papular) types, the angiokeratoma circumscriptum, and the angiokeratoma corporis diffusum. The \"Mibelli-type\" occurs on the acral sites, mainly digits, 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 Angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Angiokeratoma",
"angiokeratoma",
"Mibelli-type",
"Fordyce-type",
"angiokeratoma circumscriptum",
"angiokeratoma corporis diffusum",
"Mibelli-type\"",
"angiokeratoma circumscriptum",
"angiokeratoma corporis diffusum",
"enzyme disorders",
"carcinoma of the penis"
] | [
"X-linked recessive disorder",
"homozigous"
] | [
"wart-like vascular lesion of the skin",
"solitary and multiple (papular) types",
"on the acral sites, mainly digits",
"repeated attacks of chilblain",
"deleterious effects on vessel walls",
"Fordyce-type\"",
"on the scrotal skin",
"increased blood pressure in scrotal veins",
"on the skin of the vul... | [
"surgical amputation of the penis",
"bilateral inguino-crural lymphadenectomy",
"inguinocrural hernioplasty"
] | null | [
"alpha-galactosidase A enzyme deficiency (Anderson-Fabry disease)"
] | null |
fabry:9611356 | Angiokeratoma: a cause of scrotal bleeding. | [
"We report a case of Fordyce angiokeratoma which presented with bleeding from the scrotum. The difference between Fordyce's angiokeratoma and Fabry's angiokeratoma corporis diffusum is described. The diagnosis, treatment and prognosis of scrotal angiokeratoma are discussed."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fordyce angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Fordyce angiokeratoma",
"Fordyce's angiokeratoma",
"Fabry's angiokeratoma corporis diffusum",
"scrotal angiokeratoma"
] | null | [
"bleeding from the scrotum"
] | null | null | null | null |
fabry:9554750 | Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. Online. | [
"Fabry disease is an X-linked inborn error of sphingolipid catabolism resulting from deficient enzyme activity of alpha-galactosidase A. The molecular defects of human alpha-galactosidase A gene causing Fabry disease have been characterized, including gene rearrangement and point mutations, which show the genetic 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 Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"inborn error of sphingolipid catabolism",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"molecular defects",
"human alpha-galactosidase A gene",
"gene rearrangement",
"point mutations",
"genetic heterogeneity",
"A G to C transversion was identified in the last nucleotide of exon 1",
"mutation obliterates an EcoN1 restriction site",
"changes the amino acid from serine to thr... | null | null | [
"Chinese",
"Chinese",
"Chinese"
] | null | null |
fabry:9529988 | Fabry's disease--a case report and review of literatures reported in Korea. | [
"Fabry's disease is a rare, X-linked disorder of the glycosphingolipid metabolism, in which a partial or total deficiency of a lysosomal alpha(alpha)-galactosidase results in the progressive accumulation of neutral glycosphingolipids with terminal alpha galactose moieties (i.e., cerebroside di- and trihexoside) 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",
"disorder of the glycosphingolipid metabolism",
"Fabry's disease",
"Fabry's disease"
] | [
"rare, X-linked"
] | [
"fever",
"headache",
"typical skin findings"
] | null | [
"Korea",
"Korea"
] | [
"partial or total deficiency of a lysosomal alpha(alpha)-galactosidase"
] | null |
fabry:9519183 | Fabry's disease: a multidisciplinary disorder. | [
"Fabry's disease is an X-linked hereditary disorder resulting in accumulation of a glycolipid (galactosylgalactosyl glucosylceramide) due to deficiency of alpha-galactosidase A. The diagnosis can be made by histopathologic examination of skin biopsy, low activity of alpha-galactosidase in leucocytes and genetic exa... | [
"<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"
] | [
"X-linked hereditary disorder"
] | [
"acceleration of symptoms"
] | [
"symptomatic"
] | null | [
"low activity of alpha-galactosidase in leucocytes"
] | null |
fabry:9487277 | Cardiac transplantation for Fabry's disease. | [
"Fabry's disease is a rare cause of cardiomyopathy. There are no previous reported cases of cardiac transplantation for end-stage cardiomyopathy secondary to Fabry's disease. Recurrence of disease in allografts following renal transplantation has been documented, but the course following heart transplantation is no... | [
"<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",
"cardiomyopathy",
"end-stage cardiomyopathy secondary to Fabry's disease",
"end-stage restrictive cardiomyopathy",
"Fabry's disease",
"end-stage Fabry's cardiomyopathy"
] | null | [
"Recurrence of disease in allografts",
"congestive heart failure"
] | [
"cardiac transplantation",
"renal transplantation",
"heart transplantation",
"cardiac transplantation",
"-transplantation",
"heart transplantation",
"Heart transplantation"
] | null | null | [
"did not show any such inclusions",
"no clinical evidence of Fabry's cardiomyopathy"
] |
fabry:9467364 | Granulomatous cheilitis: a study of six cases. | [
"Granulomatous cheilitis (GC) is a very rare disorder of unknown etiology. Clinically, GC is characterised by recurrent swelling of the labial tissues, which may be followed by a permanent enlargement. Histologically, the typical form of GC is characterised by the formation of scattered aggregates of non-caseating ... | [
"<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 Granulomatous cheilitis (GC)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Granulomatous cheilitis (GC)",
"GC",
"GC",
"GC",
"orofacial granulomatosis",
"sarcoidosis",
"Crohn's disease",
"atypical tuberculosis",
"Anderson-Fabry disease",
"allergic reactions",
"Melkersson-Rosenthal syndrome (MRS)",
"GC",
"oligosymptomatic",
"monosymptomatic form of MRS",
"GC"
] | null | [
"recurrent swelling of the labial tissues",
"permanent enlargement",
"persistent swelling of the lower lip",
"swelling in the upper lip",
"swelling was present in both lips",
"GC",
"other feature of MRS",
"permanent swelling of the upper lip"
] | [
"treatment with the intralesional infusion of corticosteroids",
"oral administration of corticosteroids"
] | [
"Greece"
] | null | [
"refused to be treated"
] |
fabry:9358728 | Fabry's disease presenting as syncope, angiokeratomas, and spoke-like cataracts in a young man: discussion of the differential diagnosis. | [
"A 44-year-old male with a remote history of skin lesions and cataracts presented with subacute onset of syncope. The presentation and the differential diagnosis in this case of Fabry's disease are discussed. The pathophysiology, diagnosis, clinical manifestations, and treatment of this disorder are discussed, with... | [
"<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's disease",
"Fabry's disease"
] | null | [
"remote history of skin lesions and cataracts",
"subacute onset of syncope",
"reduction in the patient's syncopal event frequency",
"oculocutaneous symptoms",
"renovascular and autonomic nervous system complications"
] | [
"Fludrocortisone acetate therapy",
"conservative approach"
] | null | null | null |
fabry:9326250 | Molecular interactions between Hb alpha-G Philadelphia, HbC, and HbS: phenotypic implications for SC alpha-G Philadelphia disease. | [
"We show here that alpha2(G-Phila.) beta2(C) has an increased rate of crystal nucleation compared to alpha2 beta2(C) (HbC). We conclude from this finding that position alpha68, the mutation site of alpha2(G-Phila.) beta2 (HbG(Philadelphia)), is a contact site in the crystal of HbC. In addition, that HbS enhances Hb... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We show here that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n alpha2(G-Phila.) beta2(C)\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"SC alpha-G Philadelphia disease)",
"SC disease",
"SC alpha-G Philadelphia disease"
] | [
"alpha2(G-Phila.) beta2(C)",
"position alpha68, the mutation site of alpha2(G-Phila.) beta2 (HbG(Philadelphia)), is",
"simultaneously heterozygous for the betaS, betaC, and the alpha(G-Phila.) genes",
"opposite effects of the gene product of the alpha(G-Phila.) gene on the betaC and betaS gene products",
"m... | [
"mild clinical course",
"are unusually long and thin, resembling sugar canes, unlike those seen in SC disease",
"mild clinical course",
"increased crystallization"
] | null | null | [
"HbS enhances HbC crystallization",
"alpha(G-Phila.)",
"alpha(G-Phila.) inhibits polymerization of HbS",
"increased crystallization",
"decreased polymerization",
"polymerization of HbS",
"crystallization induced by betaC chains"
] | null |
fabry:9213072 | The vascular dementia of Fabry's disease. | [
"Fabry's disease, a rare X-linked disorder of glycosphingolipid metabolism, can present as an insidious dementia in middle or later life. This genetic disorder produces a deficiency of alpha-galactosidase A which results in the deposition of glycosphingolipids in blood vessel walls in the brain as well as in the ki... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"disorder of glycosphingolipid metabolism",
"Fabry's disease"
] | [
"rare X-linked",
"genetic disorder"
] | [
"insidious dementia",
"cerebrovascular manifestations",
"vascular dementia from involvement of multiple small penetrating blood vessels",
"vascular dementia"
] | null | null | [
"deficiency of alpha-galactosidase A"
] | null |
fabry:9155966 | Cutaneous manifestations of fucosidosis. | [
"Angiokeratoma corporis diffusum (ACD) is still often thought to be synonymous with Anderson-Fabry disease, a deficiency of alpha-galactosidase. It is important, however, to consider other possible enzyme deficiencies in patients with ACD. We report an 8-year-old boy with neurodevelopmental delay who was diagnosed ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"(ACD)",
"Anderson-Fabry disease",
"ACD",
"fucosidosis",
"ACD",
"dysostosis multiplex",
"fucosidosis"
] | null | [
"Angiokeratoma corporis diffusum",
"neurodevelopmental delay",
"distal transverse purple nail bands",
"acrocyanosis",
"naevus anaemicus"
] | null | null | [
"deficiency of alpha-galactosidase",
"enzyme deficiencies"
] | null |
fabry:9232078 | [Complete atrioventricular block disclosing Fabry's disease]. | [
"Fabry's disease is a hereditary sex-linked sphinglopidosis characterised by abnormal cellular lipid overload in most organs due to deficiencies in enzymes implicated in the catabolism of certain neutral glycolipids. There are two main clinical forms; cardiovascular manifestations usually congestive cardiac failure... | [
"<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",
"sphinglopidosis",
"juvenile",
"Fabry's disease"
] | [
"hereditary sex-linked"
] | [
"cardiovascular manifestations",
"congestive cardiac failure",
"renal manifestations",
"renal failure",
"death",
"uraemic coma",
"symptomatic complete infrahisian atrioventricular block",
"cardiovascular complications"
] | null | null | [
"deficiencies in enzymes implicated in the catabolism of certain neutral glycolipids"
] | null |
fabry:9116979 | Pulmonary involvement in Fabry disease. | [
"Fabry disease is an X-linked inborn error of metabolism resulting from deficient activity of alpha-galactosidase A. Although several case reports have suggested an association between Fabry disease and airway obstruction, this has not been investigated in a large series of patients. We studied 25 unselected, conse... | [
"<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"
] | [
"X-linked inborn error of metabolism",
"Specific alpha-galactosidase A mutations",
"frameshift mutations",
"D264V missense mutation"
] | [
"airway obstruction",
"dyspnea",
"cough and/or wheezing",
"airway obstruction",
"dyspnea or wheezing",
"streaky bibasilar densities",
"obstructive impairment",
"airway obstruction",
"obstruction",
"fixed narrowing of the airways"
] | [
"smoking",
"bronchodilators"
] | null | null | [
"all 10 methacholine challenges were negative",
"normal lung fields",
"No pulmonary uptake occurred on 67Ga citrate scans",
"regardless of smoking history"
] |
fabry:9049452 | Subclinical Fabry's disease occurring in the context of IgA nephropathy. | [
"A 28-year-old male patient with both IgA nephropathy and an unusual case of Fabry's disease has been followed for 10 years. Diagnosis of both these diseases was made by histological examination of renal biopsy tissues and the enzyme activities of alpha-galactosidase A. Serial biopsies revealed the hithertofore unr... | [
"<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 28-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"both IgA nephropathy",
"unusual case of Fabry's disease",
"Fabry's disease associated with IgA nephropathy"
] | null | null | null | null | [
"alpha-galactosidase A activity is markedly decreased in the plasma",
"the activity in leukocytes and culture fibroblasts showed a considerable residual activity"
] | [
"Physical examinations and routine laboratory analyses",
"failed to show significant signs of Fabry's disease throughout the 10-year period"
] |
fabry:9375832 | A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote. | [
"We report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appe... | [
"<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 15-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry heterozygote",
"Fabry heterozygotes",
"Fabry disease"
] | [
"heterozygous"
] | [
"characteristic swollen, glistening and white appearance",
"pale white discoloration"
] | null | null | [
"asymptomatic proteinuria",
"asymptomatic proteinuria"
] | [
"characteristic skin lesions are absent"
] |
fabry:8973687 | High-flow priapism associated with Fabry's disease in a child: a case report and review of the literature. | [
"We report a case of priapism in an 11-year-old boy known to have Fabry's disease. High flow was confirmed by color flow Doppler ultrasound and intracorporal blood gas measurements. Successful treatment was achieved by unilateral percutaneous Gelfoam embolization of the left internal pudendal artery. Previously rep... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n priapism\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Fabry's disease",
"associated with Fabry's disease",
"associated with Fabry's disease",
"associated with Fabry's disease"
] | null | [
"priapism",
"High flow",
"priapism",
"priapism",
"high-flow priapism",
"Priapsim",
"unregulated high arterial inflow"
] | [
"unilateral percutaneous Gelfoam embolization of the left internal pudendal artery",
"percutaneous embolization therapy"
] | null | null | [
"did not respond to conventional treatment including cavernovenous shunting",
"pursue other ineffective conventional treatments"
] |
fabry:9036128 | [Angiokeratoma corporis diffusum universale (Fabry disease)]. | [
"Fabry's disease (Angiokeratoma corporis diffusum) is a rare X-chromosome linked recessive disorder belonging to the group of sphingolipoidoses. The basic defect involves the gene encoding alpha-galactosidase. Because this enzyme is responsible for decomposition of glycosphingolipids, its deficiency results in thei... | [
"<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",
")",
"sphingolipoidoses"
] | [
"rare X-chromosome linked recessive disorder",
"gene encoding alpha-galactosidase"
] | [
"Angiokeratoma corporis diffusum",
"generalized angiokeratomas",
"paresthesias",
"renal and cardiac insufficiency",
"cerebrovascular complications",
"unique nail fold capillary changes"
] | null | null | [
"decomposition of glycosphingolipids",
"deficiency"
] | null |
fabry:8859034 | Angiokeratoma corporis diffusum associated with beta-mannosidase deficiency. | [
"Angiokeratoma corporis diffusum (ACD) was at one time thought to be synonymous with Anderson-Fabry disease. However, it is well known that widespread angiokeratomas may also be found in other lysosomal enzyme disorders, as well as in patients with normal enzyme activities. beta-Mannosidase deficiency was first des... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum (ACD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Anderson-Fabry disease",
"lysosomal enzyme disorders",
"ACD",
"ACD"
] | [
"recessive autosomal hereditary nature of the disease"
] | [
"Angiokeratoma corporis diffusum (ACD)",
"widespread angiokeratomas",
"mental retardation",
"neurologic disorders",
"progressive ACD affecting the lower limbs and the buttocks",
"purely dermatologic findings"
] | null | null | [
"beta-Mannosidase deficiency",
"beta-mannosidase deficiency",
"beta-mannosidase deficiency in cultured fibroblasts",
"and in samples of serum and leukocytes",
"beta-mannosidase deficiency",
"beta-Mannosidase deficiency",
"enzyme abnormalities"
] | [
"normal enzyme activities",
"no other anomalies",
"absence of neurologic disorders or mental retardation"
] |
fabry:8863162 | Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene. | [
"We describe two female monozygotic (MZ) twins heterozygous for Fabry disease, an X linked disorder resulting from the deficient activity of alpha-galactosidase A. While one of the twins was clinically affected, the other was asymptomatic. Enzymatic assay of alpha-galactosidase in blood leucocytes, skin fibroblasts... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Fabry disease"
] | [
"X linked disorder",
"de novo mutation",
"as yet undescribed point mutation at position 10182 of exon 5 which causes an Asp to Asn substitution at codon 231",
"X inactivation status",
"unbalanced inactivation in the twins' fibroblasts and in opposite directions",
"While the maternally derived X chromosome... | null | null | null | null | [
"asymptomatic"
] |
fabry:8712102 | Immunofluorescence analysis of trihexosylceramide accumulated in the hearts of variant hemizygotes and heterozygotes with Fabry disease. | [
"An immunofluorescence method was applied to detect trihexosylceramide accumulated in the cardiac tissues from a variant hemizygote and a heterozygous female with Fabry disease, the incidence of which had been suspected to be high."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 immunofluorescence method\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Fabry disease"
] | [
"variant hemizygote",
"heterozygous"
] | null | null | null | null | null |
fabry:8687196 | Cerebrovascular complications of Fabry's disease. | [
"Fabry's disease (FD) is a rare, sex-linked disorder resulting from alpha-galactosidase deficiency. Cerebrovascular complications have been reported in the literature but have not been systematically analyzed. We report 2 patients and review 51 previously reported cases (descriptive meta-analysis) to clarify the cl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"FD"
] | [
"sex-linked disorder",
"hemizygous individuals",
"heterozygotes",
"hemizygote",
"heterozygote",
"hemizygotes",
"heterozygotes",
"hemizygotes",
"heterozygote",
"hemizygotes",
"heterozygotes",
"hemizygotes",
"heterozygotes"
] | [
"Cerebrovascular complications",
"cerebrovascular symptoms",
"hemiparesis",
"vertigo/dizziness",
"diplopia",
"dysarthria",
"nystagmus",
"nausea/vomiting",
"head pain",
"hemiataxia",
"ataxia of gait",
"memory loss",
"dizziness",
"ataxia",
"hemiparesis",
"loss of consciousness",
"hemis... | null | null | [
"alpha-galactosidase deficiency"
] | null |
fabry:8832134 | Coexistence of gene mutations causing Fabry disease and Duchenne muscular dystrophy in a Japanese boy. | [
"Both Fabry disease and Duchenne muscular dystrophy were confirmed by gene analysis in a Japanese boy. He developed muscle weakness at 4 years of age. A muscle biopsy revealed lamellar inclusion bodies in vascular endothelial cells in addition to myopathic changes with negative dystrophin staining. The myopathic sy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Both \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: 0.3... | [
"Fabry disease",
"Duchenne muscular dystrophy",
"pneumonia"
] | [
"two gene mutations; a novel single-base deletion in exon 3 of the alpha-galactosidase gene, and a dystrophin gene deletion extending from exon 46 to exon 50"
] | [
"muscle weakness",
"myopathic symptoms",
"died",
"hypohidrosis",
"angiokeratoma"
] | null | [
"Japanese"
] | null | [
"negative dystrophin staining",
"No clinical manifestations of Fabry disease were observed"
] |
fabry:8803726 | Vasospastic angina in a patient with Fabry's disease who showed normal coronary angiographic findings. | [
"It has been reported that coronary diseases in patients with Fabry's disease are induced by deposits in endothelial cells and coronary smooth muscle cells. Most of those are ischemia due to stenosis. This report describes a case of patient with Fabry's disease who showed severe vasospasms without coronary artery s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It has been reported that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n coronary diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"coronary diseases",
"ischemia due to stenosis",
"severe vasospasms",
"endothelial cell damage",
"coronary vasospasm",
"coronary artery spasms"
] | null | null | null | [
"without coronary artery stenosis",
"without the organic stenosis of coronary arteries"
] |
fabry:8834244 | Novel trinucleotide deletion in Fabry's disease. | [
"We describe the molecular characterization of a novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene in a patient with Fabry's disease. The 3-bp deletion we identified, besides the typical severe clinical features, also expresses diffuse facial telangiectasias, which is a new cutane... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe the molecular characterization 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 novel, in-frame deletion that is located in exon 7 of the alp... | [
"Fabry's disease",
"Fabry's disease"
] | [
"novel, in-frame deletion that is located in exon 7 of the alpha-galactosidase A gene",
"3-bp deletion"
] | [
"severe clinical features",
"diffuse facial telangiectasias"
] | null | null | null | null |
fabry:8726095 | Possible mechanism of anhidrosis in a symptomatic female carrier of Fabry's disease: an assessment by skin sympathetic nerve activity and sympathetic skin response. | [
"Fabry's disease, X-linked alpha-galactosidase deficiency, features a variety of autonomic abnormalities including anhidrosis. In this study, we measured the skin sympathetic nerve activity (SSNA), skin potential and sweat rate in a symptomatic female carrier to investigate the underlying pathophysiology of anhidro... | [
"<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",
"anhidrosis",
"Fabry's disease"
] | [
"X-linked"
] | [
"autonomic abnormalities",
"anhidrosis",
"anhidrosis",
"sweat gland dysfunction"
] | null | null | [
"alpha-galactosidase deficiency",
"abnormal SSNA"
] | [
"basal activity and responsiveness of SSNA were both fairly well preserved, although slightly reduced compared with the control levels",
"sweating was completely absent",
"despite the normal skin potential change in response to SSNA bursts"
] |
fabry:8625596 | The Ilizarov external fixator for treatment of deformities in Paget's disease. | [
"Paget's disease of bone may cause progressive bowing of affected femurs and tibiae. Fractures or osteotomies in these patients technically are difficult to treat and may lead to delayed union or nonunion. The authors report their early results with the use of the Ilizarov external fixator to affix 3 corrective clo... | [
"<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 Paget's disease of bone\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Paget's disease of bone",
"fracture"
] | null | [
"progressive bowing of affected femurs and tibiae",
"delayed union",
"nonunion",
"delayed union",
"Deformities were corrected fully during the surgery",
"stability of the fixation is excellent",
"structurally weak bone",
"Bony union"
] | [
"Fractures or osteotomies",
"Ilizarov external fixator",
"affix",
"corrective closing wedge osteotomies",
"Compression of the healing bone",
"enhance osseous healing"
] | null | null | [
"without complications"
] |
fabry:8819626 | Galactosialidosis in two siblings. | [
"Galactosialidosis is a rare lysosomal storage disease associated with deficiencies of alpha-galactosidase and beta-neurominidase. In this report, two siblings with galactosialidosis, resembling Niemann-Pick disease with the presence of foamy cells in multiple organs, splenomegaly and prominent hepatomegaly, are pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Galactosialidosis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35... | [
"Galactosialidosis",
"rare lysosomal storage disease",
"galactosialidosis",
"lysosomal storage disease"
] | null | [
"splenomegaly",
"prominent hepatomegaly"
] | [
"prenatal diagnosis"
] | null | [
"deficiencies of alpha-galactosidase and beta-neurominidase",
"Galactosidase deficiency"
] | null |
fabry:8739292 | Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure. | [
"It is generally accepted that Fabry disease (angiokeratoma corporis diffusum) is an X-linked disorder resulting from the deficient activity of the lysosomal enzyme alpha-galactosidase. In males, the enzymatic defect leads to accumulation of glycosphingolipids, particularly in the kidney which causes end-stage rena... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">It is generally accepted that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry disease",
")",
"end-stage renal disease",
"focal and segmental glomerulosclerosis",
"hereditary renal disorder",
"Fabry disease",
"end-stage renal disease",
"Fabry disease"
] | [
"X-linked disorder",
"heterozygous",
"frameshift mutation"
] | [
"angiokeratoma corporis diffusum"
] | [
"hemodialysis",
"kidney transplantation in the mother",
"transplantation"
] | null | [
"deficient activity of the lysosomal enzyme alpha-galactosidase",
"enzymatic defect",
"proteinuria",
"The leukocyte alpha-galactosidase activity was 0.008 mumol/min.10(9) cells in the son and 0.070 in the mother (range 0.100-0.500 mumol/min.10(9) cells)"
] | null |
fabry:8554452 | Atypical Fabry's disease. An oligosymptomatic variant. | [
"Fabry's disease is a rare, inherited, X-linked metabolic storage disease with ceramide hexoside due to alpha-galactosidase A deficiency. Patients with typical Fabry's disease usually present with several clinical manifestations of corneal dystrophy, neurologic abnormalities, cardiovascular disease, heavy proteinur... | [
"<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",
"metabolic storage disease",
"Fabry's disease",
"atypical Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"rare, inherited",
"X-linked"
] | [
"corneal dystrophy",
"neurologic abnormalities",
"cardiovascular disease",
"characteristic cutaneous angiokeratoma",
"oligosymptomatic phenotype",
"symptoms restricted solely to cardiocytes or kidney",
"histologic and ultrastructural findings",
"initially unrecognized, scattered, dark-pinkish scrotal ... | null | null | [
"alpha-galactosidase A deficiency",
"heavy proteinuria",
"intermittent trace or 1(+) proteinuria only",
"trace proteinuria",
"markedly decreased enzyme level in the hemizygous range"
] | [
"no history of renal disease in any other family member"
] |
fabry:7503071 | A female heterozygous patient with Fabry's disease with renal accumulation of trihexosylceramide detected with a monoclonal antibody. | [
"We describe a female patient with heterozygous Fabry's disease. The patient had persistent proteinuria and microhematuria but lacked any other diagnostic signs such as corneal and cutaneous involvement. Kidney tissue obtained at biopsy showed the segmentally distributed enlarged glomerular epithelia. These cells w... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"heterozygous Fabry's disease",
"heterozygous Fabry's disease",
"Fabry's disease"
] | null | null | null | null | [
"persistent proteinuria",
"microhematuria",
"Alpha-galactosidase activity of leukocytes was 67 nmol/mg protein/hr, which was approximately half that of the normal population (mean +/- SD, 147 +/- 65 nmol/mg protein/hr"
] | [
"lacked any other diagnostic signs such as corneal and cutaneous involvement"
] |
fabry:8641885 | [Angiokeratoma corporis diffusum without associated metabolic disorder]. | [
"In a 22-year-old woman with mental impairment and some signs of dysmorphism, numerous angiokeratomas developed, starting when she was 3 years old and resulting in the clinical picture of angiokeratoma corporis diffusum. Extensive laboratory analyses did not disclose any associated metabolic disorder,and electron m... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 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 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"idiopathic angiokeratoma corporis diffusum)"
] | null | [
"mental impairment",
"some signs of dysmorphism",
"numerous angiokeratomas",
"angiokeratoma corporis diffusum",
"angiokeratoma corporis diffusum"
] | null | null | null | [
"did not disclose any associated metabolic disorder",
"failed to demonstrate lysosomal inclusions",
"without associated metabolic disease"
] |
fabry:8583703 | A case of Fabry's disease with granulomatous interstitial nephritis. | [
"A 15-year-old boy with proteinuria and hematuria is reviewed in this study. He was first found to have urinary abnormalities at the age of 13 years, and his renal function was exacerbated for a short duration. Renal biopsy was performed to make a histological diagnosis and to establish adequate therapy. Light micr... | [
"<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 15-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",
"granulomatous interstitial nephritis"
] | null | [
"urinary abnormalities",
"renal function was exacerbated for a short duration",
"renal dysfunction",
"renal insufficiency",
"renal function",
"deteriorate"
] | null | null | [
"proteinuria",
"hematuria",
"The alpha-galactosidase activity of lymphocytes from the patient was measured",
"lymphocytes had a low level of alpha-galactosidase activity"
] | null |
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