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:8523662 | [The anesthetic management of a patient with Fabry's disease]. | [
"There are no reports of anesthesia for a patient with Fabry's Disease in Japan. Fabry's Disease is a rare hereditary disease that is characterized by alpha-galactosidase deficiency caused by deposition of glycolipid in many organs. The disease may be complicated by cardiac ischemic disease, neurological disorder a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are no reports 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 anesthesia\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Fabry's Disease",
"Fabry's Disease",
"cholelithiasis",
"chronic pyelits",
"nephrosis",
"Fabry's Disease"
] | [
"rare hereditary disease"
] | [
"cardiac ischemic disease",
"neurological disorder",
"renal failure",
"hyperglycemia",
"chronic renal failure",
"ischemic change on leads II, V5 and V6",
"hypertension",
"hypohidrosis",
"neuromuscular blocking effects of vecuronium could be prolonged"
] | [
"anesthesia",
"cholecystectomy",
"hemodialysis",
"Nifedipine",
"anesthesia",
"induced with thiopental followed by vecuronium for endotracheal intubation",
"maintained with nitrous oxide, oxygen and isoflurane",
"nicardipine",
"hypertension",
"vecuronium for muscle relaxation",
"nitroglycerin was... | [
"Japan"
] | [
"alpha-galactosidase deficiency"
] | [
"avoided the effect of atropine for reversal of muscle relaxation"
] |
fabry:7591747 | Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. | [
"This report concerns an 18-year-old boy who is hemizygote for Fabry's disease. Varying degrees of nonpulsating headache crises, lasting from a few hours to several days, began when he was 16 years of age. Painful crises in the extremities, characteristic of Fabry's disease, were not present. Although only occasion... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This report concerns 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 18-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | null | [
"hemizygote for Fabry's disease"
] | [
"Varying degrees of nonpulsating headache crises, lasting from a few hours to several days",
"Painful crises in the extremities",
"Fabry's disease",
"several episodes of throbbing headache with vomiting",
"intracranial hypertension",
"delayed radioisotope clearance on cisternography",
"multiple old cere... | [
"prednisolone"
] | null | [
"noninfectious pleocytosis"
] | [
"not present",
"without aura",
"The meningeal signs were equivocal",
"Nonsteroidal anti-inflammatory drugs, antidepressants, carbamazepine, and glycerol were of no benefit for his headache"
] |
fabry:7501549 | Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. | [
"Generalized anhidrosis with heat collapse, painful fingers, and angiokeratomas were the presenting signs in a 23-year-old man who was shown by enzyme studies and electron microscopy to have Fabry disease. His 6-year-old brother had the early diagnostic findings of episodic painful fingers, heat intolerance, and re... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Generalized anhidrosis with heat collapse\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Fabry disease",
"Fabry disease"
] | null | [
"Generalized anhidrosis with heat collapse",
"painful fingers",
"angiokeratomas",
"episodic painful fingers",
"heat intolerance",
"retroauricular telangiectasia",
"progressive renal failure",
"acrodynia",
"anhidrosis",
"several angiomatous papules on one breast",
"angiomas",
"telangiectasia",
... | null | null | [
"absence of alpha-galactosidase"
] | null |
fabry:7549555 | Fabry's disease: report of a case. | [
"Fabry's disease is a rare hereditary disorder of glycosphingolipid metabolism. Its clinical features have not been adequately described in Taiwan. This paper reports on a 32-year-old man who had painful acroparesthesia, disseminated skin angiokeratomas, whorled corneal opacity, mitral valve prolapse and renal insu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 hereditary"
] | [
"painful acroparesthesia",
"disseminated skin angiokeratomas",
"whorled corneal opacity",
"mitral valve prolapse",
"renal insufficiency",
"involvement of the central motor pathways and the autonomic nervous system"
] | null | [
"Taiwan"
] | [
"reduced serum activity of alpha-galactosidase A",
"large amount of urinary globotriaosylceramide"
] | null |
fabry:7609389 | [Fabry disease, an ophthalmo-neuro-dermato-cardio-nephrologic problem]. | [
"We want to present a 47-years-old patient suffering of a histologically and biochemically confirmed M. Fabry. Besides the ocular findings, we list the systemic findings and discuss the diagnostic and therapeutic possibilities. We especially want to point out the interdisciplinary collaboration in dealing with this... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We want to present 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-years-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"M. Fabry"
] | null | null | null | null | null | null |
fabry:7619194 | Successful treatment of painful crises of Fabry disease with low dose morphine. | [
"Fabry disease is an X-linked disorder characterized in childhood by angiokeratoma, corneal opacities, and pain. At age 7 years our patient began experiencing an intermittent intense \"burning\" sensation within his feet and hands (acroparesthesias). Treatment with aspirin, acetaminophen, acetominophen with codeine... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"X-linked disorder"
] | [
"angiokeratoma",
"corneal opacities",
"pain",
"intermittent intense \"burning\" sensation within his feet and hands (acroparesthesias)",
"reduced the frequency and duration of painful crises to 3-4 times annually",
"pain was relieved",
"treating 7 crises",
"Pain control"
] | [
"Carbamazepine and phenytoin",
"low-dose morphine infusion with increasing dosage",
"morphine given as 0.06 mg/kg IV push, followed by a continuous infusion of 0.02 mg/kg/hr with amitriptyline 0.25 mg/kg at bedtime",
"infusion gradually tapered after 24 hours"
] | null | null | [
"Treatment with aspirin, acetaminophen, acetominophen with codeine",
", and phenytoin was unsuccessful"
] |
fabry:7771377 | Sudden death in elderly women with Fabry's disease. | [
"We report two cases of elderly women who died unexpectedly. In both cases, light- and electron-microscopical examination proved a diagnosis of Fabry's disease. The major pathological changes were myocardial mottling, foamy vacuolation of myocytes and glomerular endothelial cells, and characteristic lamellar inclus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n elderly\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"died",
"unexpectedly",
"myocardial mottling",
"sudden death"
] | null | null | null | null |
fabry:8525810 | A histochemical and electron microscopic study of skeletal and cardiac muscle from a Fabry disease patient and carrier. | [
"Histochemical and electron microscopic studies were performed in an attempt to clarify the muscle pathology in an 18-year-old man with Fabry disease, showing proximal limb muscle atrophy, and his 52-year-old mother, who is a Fabry carrier with hypertrophic cardiomyopathy. Despite the relatively mild myopathic chan... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Histochemical and electron microscopic studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"proximal limb muscle atrophy",
"skeletal muscle",
"mosaic pattern of cardiac muscle involvement",
"Lyonization"
] | null | null | null | [
"Despite the relatively mild myopathic changes"
] |
fabry:7897017 | Histopathologic and ultrastructural studies of angiokeratoma corporis diffusum in Kanzaki disease. | [
"A novel metabolic disease, angiokeratoma corporis diffusum (Kanzaki), was the subject of an extensive histopathologic and ultrastructural study. Findings included dilated lymph and blood vessels in the upper dermis with an orthokeratortic, thickened, horny layer in well developed angiokeratoma. In the early papule... | [
"<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 novel metabolic disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"novel metabolic disease",
"angiokeratoma corporis diffusum (Kanzaki)",
"Kanzaki Disease",
"Fabry disease",
"lysosomal storage disease"
] | null | [
"early papules"
] | null | null | null | [
"none was observed in the vascular endothelial cells",
"none was noted in the epithelial cells of the kidney"
] |
fabry:7650442 | [Childhood acromelalgia a propos of a case revealing Fabry's disease]. | [
"The occurrence of an acrosyndrome (Raynaud's phenomenon, erythermalgia, acrodynia...) in childhood may be the first manifestation of a general disease. Though it can be an early onset Raynaud's disease, it could also be the first sign of a connective tissue disease (juvenile polyarthritis, mixed connectivitis...) ... | [
"<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 occurrence of an acrosyndrome (Raynaud's phenomenon\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Raynaud's disease",
"connective tissue disease",
"juvenile polyarthritis",
"mixed connectivitis",
"overload disorder",
"Fabry's disease"
] | [
"chromosome X-linked hereditary disorder"
] | [
"occurrence of an acrosyndrome (Raynaud's phenomenon",
"erythermalgia",
"acrodynia",
"\"boxer-short\" angiokeratoma",
"cornea verticillata"
] | null | null | null | null |
fabry:7853764 | Fabry-like laminated myelin body associated with IgA nephropathy. | [
"We present the first female patient to exhibit Fabry-like myelin bodies in the glomerular epithelial cell in association with IgA nephropathy. This previously healthy 36-year-old woman presented with proteinuria and hematuria without skin lesions. Renal biopsy showed typical IgA nephropathy, with paramesangial dep... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the first \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-ra... | [
"IgA nephropathy",
"Fabry's disease",
"Fabry' disease and IgA nephropathy"
] | null | [
"skin lesion",
"neuralgia",
"hypohidrosis"
] | null | null | [
"proteinuria",
"hematuria",
"leukocytic alpha-galactosidase A activity was abnormally low",
"activity of alpha-galactosidase A in leukocytes and/or fibroblasts"
] | [
"without skin lesions",
"no family history of Fabry's disease"
] |
fabry:7834562 | Fabry's disease: clinical, pathologic and biochemical manifestations in two Chinese males. | [
"Fabry's disease is a rare hereditary disease transmitted as an X-linked recessive trait with the primary metabolic defect of an enzyme alpha-galactosidase A, resulting in deposition of glycolipids (ceramide trihexoside) in various tissues, including the kidneys. Two sibling cases of Chinese adult male patients 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"
] | [
"rare hereditary disease transmitted as an X-linked recessive trait",
"metabolic defect of an enzyme alpha-galactosidase A"
] | [
"telangiectases",
"acral pains",
"corneal opacities",
"tortuous renal vessels",
"recurrent fever",
"Chronic renal insufficiency"
] | null | [
"Chinese"
] | [
"proteinuria",
"Microscopic hematuria",
"plasma activity of alpha-galactosidase of",
"was 0.8 and that of",
"was 1.0 (normal reference range: 8.5-18.5 nmol/hr/min)",
"The plasma activity of alpha-galactosidase A of",
"was 0.4 and that of",
"was 0.8 (normal reference range: 7.9-16.9 nmol/hr/min)",
"A... | [
"normal renal function"
] |
fabry:7887166 | Central retinal artery occlusion in a patient with Fabry's disease documented by scanning laser ophthalmoscopy. | [
"Fabry's disease, angiokeratoma corporis diffusum, is an X-linked inborn error of glycosphingolipid metabolism due to lack of activity of the lysosomal enzyme, alpha-galactosidase A, resulting in progressive intracellular deposition of neutral glycosphingolipids in various tissues, including vascular endothelial - ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 inborn error of glycosphingolipid metabolism"
] | [
"angiokeratoma corporis diffusum",
"Occlusions of the retinal vessels",
"central retinal artery occlusion"
] | null | null | [
"lack of activity of the lysosomal enzyme, alpha-galactosidase A"
] | null |
fabry:7834942 | [An autopsied case of Fabry's disease presenting with parkinsonism and cardiomegaly as a cardinal clinical manifestation]. | [
"A 68-year-old male had been followed up under a clinical diagnosis of parkinsonism for 5 years. He was admitted to the Kanto Teishin Hospital with a chief complaint of difficulty in swallowing. Physical findings were almost normal. Neurological examination showed parkinsonism including mask-like face, positive Mye... | [
"<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 68-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"parkinsonism",
"parkinsonism",
"esophageal and gastric carcinomas",
"Fabry's disease",
"parkinsonism",
"Fabry's disease"
] | null | [
"difficulty in swallowing",
"parkinsonism",
"mask-like face",
"positive Myerson's sign",
"mild rigidity",
"marche à petit pas",
"retropulsion",
"pyramidal signs",
"mild right hemiparesis",
"generalized hyperreflexia",
"positive Babinski's sign on both sides",
"cardiac enlargement (CTR 58.7%) i... | [
"operation of these carcinomas"
] | null | [
"elevated LDH level"
] | [
"Physical findings were almost normal",
"Routine blood analysis was normal",
"without typical signs of Fabry's disease",
"without risk factors",
"no typical signs of Fabry's disease"
] |
fabry:7481431 | Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study. | [
"An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An unusual 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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry's disease",
"angiokeratoma corporis diffusum)"
] | [
"heterozygote for Fabry gene"
] | [
"bilateral thalamic infarcts due to occlusions of central nervous system vessels",
"ischemic stroke"
] | null | null | null | null |
fabry:7995582 | [Fabry disease: systemic deposition of a glycolipid]. | [
"A 20-year-old man was admitted with telangiectatic skin lesions over the lower abdomen, buttocks and genitals and also hypohidrosis and heat intolerance. Fabry disease was diagnosed on the basis of biochemical and histopathological analyses. The concentration of urinary trihexosyl-ceramide was increased but the ac... | [
"<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 20-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | null | [
"telangiectatic skin lesions over the lower abdomen, buttocks and genitals",
"hypohidrosis",
"heat intolerance"
] | null | null | [
"concentration of urinary trihexosyl-ceramide was increased",
"activity of galactosidase in serum, urine and lymphocytes was marginal"
] | null |
fabry:8051496 | A case of Fabry disease (alpha-galactosidase A deficiency). | [
"Fabry disease is a rare lipid storage disorder, often silent until adulthood. We report the case of a rural, primary care patient whose initial presentation was that of progressive weakness from anemia. The anemia was determined to be of renal origin, and led to a diagnosis of Fabry disease. Although less than 500... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"rare lipid storage disorder",
"Fabry disease"
] | null | [
"progressive weakness"
] | null | [
"rural"
] | [
"anemia",
"anemia",
"renal origin"
] | null |
fabry:8061397 | Possible thyroidal involvement in a case of Fabry disease. | [
"Endocrinological evaluations of a 48-year-old man with Fabry disease revealed low levels of serum thyroid hormones and high levels of serum thyrotropin (TSH), indicating that the patient had primary hypothyroidism. Also, an exaggerated growth hormone (GH) response to hypoglycemic stimuli was observed. Thin layer c... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Endocrinological evaluations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Fabry disease",
"primary hypothyroidism",
"Fabry disease"
] | null | [
"thyroid hypofunction",
"hypothalamic dysfunction"
] | null | null | [
"low levels of serum thyroid hormones",
"high levels of serum thyrotropin (TSH)",
"exaggerated growth hormone (GH) response to hypoglycemic stimuli"
] | null |
fabry:8003656 | Small bowel ischaemia in Fabry's disease. | [
"A patient with previously diagnosed Fabry's disease and a long history of post-prandial abdominal pain died following small bowel infarction. Post-mortem demonstrated Fabry's type deposits in the small vessels and nerves supplying the bowel but in addition, a localized atheromatous stenosis of the superior mesente... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with previously diagnosed \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; l... | [
"Fabry's disease"
] | null | [
"long history of post-prandial abdominal pain",
"died",
"small bowel infarction",
"localized atheromatous stenosis of the superior mesenteric artery",
"terminal illness",
"chronic symptoms",
"chronic post-prandial pain",
"large vessel disease"
] | [
"Angioplasty to the superior mesenteric artery"
] | null | null | null |
fabry:8193086 | Capillary changes in angiokeratoma corporis diffusum Fabry. | [
"We report on capillary changes on the Sulcus matricis unguis in a patient with an established angiokeratoma corporis diffusum Fabry. A fasciculated ramification of the capillary in 2-5 loops, which is not found in healthy individuals and that until now has solely been described in patients with vasculitis, was det... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 capillary changes on the Sulcus matricis unguis\n <span style=\"font-size: 0.8em; font-weight... | [
"vasculitis",
"Morbus Fabry"
] | null | [
"capillary changes on the Sulcus matricis unguis",
"angiokeratoma corporis diffusum Fabry",
"fasciculated ramification of the capillary in 2-5 loops",
"angiokeratomas",
"acroparaethesiae"
] | null | null | null | null |
fabry:8171979 | An arthroplastic salvage procedure for combined radiocarpal and distal radioulnar pathology. | [
"In a patient with silicone synovitis and degeneration of the distal radioulnar joint after 2 operative procedures for Kienböck's disease, and in a patient with long-standing scapholunate dissociation and distal radioulnar degenerative arthritis, a combined salvage arthroplasty was performed. A proximal row carpect... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n silicone synovitis\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"distal radioulnar degenerative arthritis"
] | null | [
"silicone synovitis",
"degeneration of the distal radioulnar joint",
"long-standing scapholunate dissociation",
"maintained reasonable function"
] | [
"2 operative procedures for Kienböck's disease",
"combined salvage arthroplasty",
"A proximal row carpectomy with a Sauvé Kapandji procedure"
] | null | null | null |
fabry:8164017 | Stroke in Fabry's disease. | [
"This study was performed to characterize the frequency, clinical presentation and etiology of cerebrovascular complications in patients with Fabry's disease. Thirty-three patients (age range 6-64 years) with Fabry's disease were reviewed, eight (24%) of whom suffered cerebrovascular complications. All patients dev... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study was performed to characterize the frequency, clinical presentation and etiology 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 cerebrovascular... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"cerebrovascular complications",
"cerebrovascular complications",
"ischemic strokes involving small arterial vessels",
"in carotid and vertebrobasilar distributions",
"stroke",
"Stroke",
"thrombosis of small arteries affected by the"
] | null | null | null | null |
fabry:8053318 | Monostotic localization of Paget disease in the hand. | [
"Paget disease rarely affects the hand and when it does, there is usually a polyosteotic involvement. Only a few cases have been described in the literature on monostotic localization in the hand. This paper adds two cases with solitary involvement of a metacarpal."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Paget disease"
] | null | [
"polyosteotic involvement",
"monostotic localization in the hand",
"solitary involvement of a metacarpal"
] | null | null | null | null |
fabry:7981715 | Complex arylsulfatase A alleles causing metachromatic leukodystrophy. | [
"Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Sequencing of the arylsulfatase A genes of a patient affected with late infantile metachromatic leukodystrophy revealed that the patient is a compound heterozygote of two alleles carrying two deleterious mutat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Metachromatic leukodystrophy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"lysosomal storage disorder",
"late infantile metachromatic leukodystrophy",
"lysosomal storage diseases",
"Fabry disease",
"Gaucher disease"
] | [
"compound heterozygote of two alleles carrying two deleterious mutation each",
"One allele bears a splice donor site mutation together with two polymorphisms and an additional missense mutation (Gly122 > Ser)",
"splice donor site mutation and the Gly122 > Ser substitution",
"other allele carries two missense ... | [
"Metachromatic leukodystrophy",
"metachromatic leukodystrophy"
] | null | null | [
"synthesized in almost normal amounts"
] | [
"expression of arylsulfatase A activity could not be detected"
] |
fabry:7917719 | Salmonella typhi osteomyelitis. | [
"Salmonella infections in man can be divided in five clinical groups: enteric fever, septicaemia without localization, focal disease, gastroenteritis and the carrier state. Salmonella typhi is mostly associated with enteric fever and the carrier state. Bone infections due to S. typhi have been reported relatively s... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Salmonella infections\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Salmonella infections",
"enteric fever",
"septicaemia",
"focal disease",
"gastroenteritis",
"Salmonella typhi",
"enteric fever",
"due to S. typhi",
"septicaemia",
"S. typhi osteomyelitis of the forearm"
] | null | [
"Bone infections",
"metastatic spread",
"direct inoculation"
] | null | null | null | [
"without localization",
"without evidence of a primary infection or direct inoculation"
] |
fabry:7707696 | Mild phenotypic expression of alpha-N-acetylgalactosaminidase deficiency in two adult siblings. | [
"Two adult siblings with an alpha-N-acetylgalactosaminidase deficiency are described. The patients' major features are massive lymphoedema and angiokeratoma corporis diffusum. Neurological evaluation performed in one of the patients was considered within normal limits. Blood type is A positive in each case. Ultrast... | [
"<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 adult\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Schindler disease",
"lysosomal storage disease"
] | null | [
"massive lymphoedema",
"angiokeratoma corporis diffusum",
"angiokeratoma"
] | null | null | [
"alpha-N-acetylgalactosaminidase deficiency",
"Blood type is A positive",
"Fibroblast activity of alpha-N-acetylgalactosaminidase was decreased to 0.6-2% of mean normal value",
"alpha-N-acetylgalactosaminidase deficiency"
] | [
"was considered within normal limits"
] |
fabry:7691242 | Compound heterozygosity for hemoglobin C and Korle-Bu: moderate microcytic hemolytic anemia and acceleration of crystal formation [corrected]. | [
"We report here that compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (beta 6 Glu-->Lys) is associated with moderate chronic hemolytic anemia with microcytosis. To understand the pathogenesis of this syndrome, we have studied the effect of Hb Korle-Bu (KB = beta 73 Asp-->Asn) on the crystallization of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report 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 compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (beta 6 Glu-->Lys)\n ... | [
"SC disease",
"CC and SC disease",
"SC disease"
] | [
"compound heterozygosity for hemoglobin Korle-Bu (HbKB) and HbC (beta 6 Glu-->Lys)",
"Hb Korle-Bu (KB = beta 73 Asp-->Asn)",
"KB/C compound heterozygotes",
"surface residue beta 73, known to participate in areas of interaction of the deoxy HbS polymer",
"HbKB/C compound heterozygote"
] | null | [
"40% HbC:60% HbS"
] | null | [
"moderate chronic hemolytic anemia",
"microcytosis",
"HbS accelerates crystallization",
"hemolysate",
"red blood cell (RBC) densities intermediate between the AC and CC phenotype",
"hemolysis",
"acceleration of Hb crystallization",
"microcytosis",
"HbC",
"increased RBC pathology",
"low proportio... | null |
fabry:8325920 | When vasculitis is not vasculitis. | [
"Conditions that mask or mimic vascular inflammation are many, the paths to diagnostic distinction are varied, and the prognostic and therapeutic consequences of misreading the signposts are profound. Six cases illustrate."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Conditions that mask or mimic \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n vascular inflammation\n <span style=\"font-size: 0.8em; font-weight: bold; l... | null | null | [
"vascular inflammation"
] | null | null | null | [
"misreading the signposts"
] |
fabry:8361476 | [A case report of atypical Fabry's disease with colon cancer]. | [
"An atypical case of Fabry's disease, a rare congenital disorder of glyco-lipid metabolism, associated with sigmoid cancer was reported. A 50-year-old man who had been diagnosed as having atypical form of Fabry's disease complained of lower abdominal pain and difficult defection. A barium enema and an endoscopic ex... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An atypical 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",
"rare congenital disorder of glyco-lipid metabolism",
"sigmoid cancer",
"atypical form of Fabry's disease",
"sigmoid colon cancer",
"Fabry's disease",
"intestinal disease",
"Fabry's disease associated with intestinal malignancy"
] | null | [
"lower abdominal pain",
"difficult defection"
] | [
"cancer",
"curatively resected"
] | null | null | null |
fabry:8211434 | Alpha-galactosidase A deficiency (Fabry's disease) in a black Zimbabwean. | [
"We describe a patient with Fabry's disease with renal and myocardial involvement. He has been followed up for 10 years. This metabolic defect has not been noted before in southern Africa; the clinical course is similar to that of western European and American cases."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heigh... | [
"Fabry's disease",
"metabolic defect"
] | null | [
"renal and myocardial involvement"
] | null | [
"southern Africa",
"western European"
] | null | null |
fabry:8466216 | Angiokeratoma corporis diffusum with glycopeptiduria due to deficient lysosomal alpha-N-acetylgalactosaminidase activity. Clinical, morphologic, and biochemical studies. | [
"Angiokeratoma corporis diffusum is a prominent cutaneous feature of certain lysosomal storage diseases. In this article, the clinical, morphologic, and biochemical features of a new, adult-onset lysosomal disease with angiokeratoma are described.",
"A 46-year-old Japanese woman had diffuse angiokeratoma, mild in... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"lysosomal storage diseases",
"infantile form of inherited neuroaxonal dystrophy",
"enzymopathy"
] | [
"autosomal recessive inheritance of the enzymatic defect"
] | [
"Angiokeratoma corporis diffusum",
"angiokeratoma",
"diffuse angiokeratoma",
"mild intellectual impairment",
"peripheral neuroaxonal degeneration",
"angiokeratoma",
"on her lower torso",
"diffusely distributed",
"angiokeratoma corporis diffusum"
] | null | [
"Japanese"
] | [
"increased urinary excretion of O-linked glycopeptides",
"deficiency of a specific glycosidase",
"less than 2% of normal alpha-N-acetylgalactosaminidase activity",
"absence of immunodetectable enzyme protein",
"enzyme deficiency",
"alpha-N-acetylgalactosaminidase deficiency"
] | null |
fabry:8103260 | Angiokeratomas in Fabry's disease and Fordyce's disease: successful treatment with copper vapour laser. | [
"Two patients with multiple angiokeratomas on genitalia and thighs, one with Fabry's disease and one with Fordyce's disease, were treated with copper vapour laser light of 578 nm wavelength. The result was desirable, with destruction and disappearance of the lesions and minimal scarring and posttreatment hyper- or ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two 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 multiple angiokeratomas on genitalia and thighs\n <span style=\"font-size: 0.8em; font-w... | [
"Fabry's disease",
"Fordyce's disease"
] | null | [
"multiple angiokeratomas on genitalia and thighs",
"destruction and disappearance of the lesions",
"minimal scarring",
"posttreatment hyper- or hypopigmentation"
] | [
"copper vapour laser light of 578 nm wavelength"
] | null | null | null |
fabry:8383310 | New findings in pathology of storage. | [
"New clinicopathological phenotypes are described in this report. A subclinical form of cholesterol ester storage disease was diagnosed in two adult female patients with hyperlipoproteinaemia type IIb. Both were profoundly deficient in acid lipase activity. Fabry's disease was described with intensive storage of gl... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">New clinicopathological phenotypes are described in this 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 subclinical form of cholesterol ester stor... | [
"subclinical form of cholesterol ester storage disease",
"hyperlipoproteinaemia type IIb",
"Fabry's disease",
"idiopathic hypertrophic cardiomyopathy"
] | null | [
"minimal neurological lesion",
"stable course",
"neurological status",
"deteriorated profoundly",
"protracted neurovisceral symptomatology"
] | null | null | [
"profoundly deficient in acid lipase activity",
"sphingomyelinase deficiency type A"
] | null |
fabry:8372648 | Avascular necrosis of the carpal scaphoid: Preiser's disease: report of 6 cases and review of the literature. | [
"Six cases of nontraumatic avascular necrosis of the scaphoid are reported. Two cases were due to chronic steroid intake with several other sites of bone necrosis; for the other 4 cases no etiology could be established. Four were treated with a proximal row carpectomy, 3 with a very satisfying result, whereas one h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Six cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n nontraumatic avascular necrosis of the scaphoid\n <span style=\"font-size: 0.8em; font-weight... | [
"nontraumatic avascular necrosis of the scaphoid"
] | null | [
"several other sites of bone necrosis"
] | [
"chronic steroid intake",
"proximal row carpectomy",
"had to be converted into a wrist arthrodesis"
] | null | null | [
"no etiology could be established"
] |
fabry:8324287 | Fabry's disease: heterozygous form of different expression in two monozygous twin sisters. | [
"A 26-year-old woman presented widespread angiokeratomas predominantly in a swimsuit distribution pattern associated with acroparesthesia in all four limbs. The tentative diagnosis of Fabry's disease (FD) was confirmed by optical and electron-microscopic findings and by appropriate biochemical testing. The work-up ... | [
"<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 (FD)",
"FD"
] | [
"heterozygous",
"X-linked hereditary diseases"
] | [
"widespread angiokeratomas predominantly in a swimsuit distribution pattern",
"acroparesthesia in all four limbs",
"ocular and renal manifestations of the disease"
] | null | null | null | null |
fabry:8270359 | Psychiatric disorders in patients with Fabry's disease. | [
"To determine the frequency and etiology of psychiatric complications in patients with Fabry's disease. Method-Retrospective analysis and review of the records of thirty-three patients with confirmed Fabry's disease.",
"Six patients (18%) developed psychiatric disorders. Five patients suffered depression and two ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To determine the frequency and etiology 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 psychiatric complications\n <span style=\"font-size: 0.8em; fon... | [
"Fabry's disease",
"Fabry's disease",
"psychiatric disorders",
"depression",
"cerebrovascular disease",
"Psychiatric disorders",
"depression",
"Fabry's disease"
] | null | [
"psychiatric complications",
"committed suicide",
"acute confusional episode",
"development of behavioral changes"
] | null | null | null | null |
fabry:8237348 | Displaced fracture of the lunate in a child. | [
"This is a report of an additional case of transverse fracture of the lunate with marked displacement, requiring open reduction and osteosynthesis. The lunate became necrotic with all features of Kienböck's disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This is a report of an additional 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 transverse fracture of the lunate with marked displacement\n <sp... | null | null | [
"transverse fracture of the lunate with marked displacement",
"The lunate became necrotic with all features of Kienböck's disease"
] | [
"open reduction and osteosynthesis"
] | null | null | null |
fabry:1486752 | Joint manifestations of Fabry's disease. | [
"We describe 2 patients with Fabry's disease with disabling crises of burning pain in hands and feet. These crises were accompanied by fever and an elevation of the erythrocyte sedimentation which often led to erroneous diagnosis of other rheumatic conditions. Fabry's disease should be considered on the different d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 2 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 Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Fabry's disease",
"Fabry's disease",
"intermittent rheumatic syndromes"
] | null | [
"disabling crises of burning pain in hands and feet",
"crises"
] | null | null | [
"fever",
"elevation of the erythrocyte sedimentation"
] | [
"erroneous diagnosis of other rheumatic conditions"
] |
fabry:1483271 | [Present possibilities of prenatal diagnosis of Fabry's disease]. | [
"Fabry's disease (angiokeratoma corporis diffusum universale) is an inborn error of metabolism, which is based on a shortage in the cumulation of glycosphingolipids in endothelial and epithelial cells of glomeruli, vascular endothelia and in ganglion cells with subsequent severe organ damage. Heredity is X-linked r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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 universale)",
"inborn error of metabolism"
] | [
"Heredity is X-linked recessive",
"female sex"
] | [
"severe organ damage"
] | [
"pregnancy"
] | null | [
"levels of the alpha-galactosidase A were established in cultivated cells"
] | null |
fabry:1338214 | [A case of Fabry's disease associated with lupus nephritis]. | [
"A 36-year-old woman was hospitalized because of nephrotic syndrome. On admission, laboratory studies revealed total protein 5.9g/dl, total cholesterol 381mg/dl, urine protein 2-4g/day, C3 68mg/dl(90-185mg/dl) and the immunological tests showed that antinuclear factor, anti-DNA antibodies and the LE cell phenomenon... | [
"<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 36-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"nephrotic syndrome",
"Fabry's disease associated with lupus nephritis",
"Fabry's disease",
"lupus nephritis"
] | [
"X-linked disorder"
] | null | null | null | [
"total protein 5.9g/dl",
"total cholesterol 381mg/dl",
"urine protein 2-4g/day, C3 68mg/dl(90-185mg/dl)",
"antinuclear factor, anti-DNA antibodies and the LE cell phenomenon were positive",
"enzyme activities",
"fibroblast extract demonstrated a partial deficiency of alpha-galactosidase",
"urine ceramid... | [
"Renal function was within normal range",
"leukocyte extract did not demonstrate a deficiency of alpha-galactosidase"
] |
fabry:1456389 | Relative hypoxia of the extremities in Fabry disease. | [
"A purine degradation study, thermography and near infrared spectroscopy of the extremities were performed on 2 young males with Fabry disease and 2 healthy controls. Two-minute semi-ischemic forearm exercise caused a distinct increase in lactate in all subjects, but venous hypoxanthine and ammonia were greatly inc... | [
"<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 purine degradation study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry disease",
"Fabry",
"pain",
"Fabry disease"
] | null | [
"relatively hypoxic state of the extremities",
"glove and stocking type disturbance at rest",
"Poor recovery of the skin temperature of the hands and forearms after exercise",
"analgesic effect, i.e. a strong and selective heat-productive action on the painful lesions",
"relatively hypoxic state",
"periph... | [
"Neurotropin"
] | null | [
"distinct increase in lactate",
"venous hypoxanthine and ammonia were greatly increased",
"sharp increase in oxygenated hemoglobin after total ischemia",
"suppressed the hypoxanthine level after exercise"
] | [
"was found to be normal or near infrared spectroscopy"
] |
fabry:1389767 | Fabry's disease with complete atrioventricular block: histological evidence of involvement of the conduction system. | [
"A 63 year old man with complete atrioventricular block was diagnosed as having Fabry's disease. A short PR interval is a common electrocardiographic finding in Fabry's disease, but complete atrioventricular block is a very rare complication. Necropsy indicated that lipid accumulation in the atrioventricular conduc... | [
"<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; ... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"complete atrioventricular block",
"short PR interval",
"complete atrioventricular block",
"atrioventricular block"
] | null | null | null | null |
fabry:1328341 | Two cases of Fabry's disease: a hemizygote with a point mutation in the alpha-galactosidase A gene and his relative. | [
"A 34-year-old Japanese male had leg pain, edema of the legs, hypohidrosis, whorl-like opacities of the bilateral cornea, bilateral subcapsular cataracts, and chest discomfort on exercise. He had no characteristic angiokeratomas but did have telangiectases. The electrocardiogram revealed high voltage. The echocardi... | [
"<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 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | [
"G--> A transition at nucleotide 982 in the coding sequence of the alpha-galactosidase A gene which resulted in a glycine to arginine amino acid substitution at residue 328"
] | [
"leg pain",
"edema of the legs",
"hypohidrosis",
"whorl-like opacities of the bilateral cornea",
"bilateral subcapsular cataracts",
"chest discomfort on exercise",
"telangiectases",
"high voltage",
"mild mitral regurgitation",
"edema of the legs",
"hypohidrosis",
"chest pain on exercise",
"t... | null | [
"Japanese"
] | [
"The alpha-galactosidase A activity in cultured lymphoblasts was deficient (0.5 nmol/h/mg protein)"
] | [
"no characteristic angiokeratomas",
"no characteristic angiokeratomas"
] |
fabry:1625060 | Fabry's disease without angiokeratomas showing unusual eccrine gland vacuolation. | [
"An unusual case of Anderson-Fabry's disease with renal damage and bilateral corneal deposits but without angiokeratomas is presented. Diagnosis was made by renal biopsy. Typical foamy transformation of endothelium, mesangium, tubular epithelial cells, vascular smooth muscle, and fibroblasts of kidney biopsy and si... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An unusual 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 Anderson-Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"Anderson-Fabry's disease",
"Fabry's disease"
] | null | [
"renal damage",
"bilateral corneal deposits"
] | null | null | null | [
"without angiokeratomas",
"myelin figures were not seen"
] |
fabry:1324036 | Fabry's disease. | [
"A 20-year-old man presented with generalized acquired anhidrosis and heat intolerance which was confirmed by a sweat test. Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. On electronmicroscopy, granules specific for Fabry's disease were observed in the endothelial cell... | [
"<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 20-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | null | [
"generalized acquired anhidrosis",
"heat intolerance",
"severe pain of the extremities",
"cutaneous angiokeratomas"
] | null | null | null | null |
fabry:1375013 | Fabry disease: immunocytochemical characterization of neuronal involvement. | [
"Fabry disease is an X-linked glycosphingolipid storage disease caused by deficiency of alpha-galactosidase. Storage of globotriaosylceramide, also known as ceramide trihexoside, is maximal in blood vessels but also occurs in neurons. We performed neuropathological histochemical studies on the brains and spinal cor... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"glycosphingolipid storage disease",
"Fabry disease"
] | [
"X-linked"
] | [
"Blood vessels throughout the nervous system",
"highly selective pattern of neuronal involvement",
"toxicity to neurons"
] | null | null | [
"deficiency of alpha-galactosidase",
"monoclonal antibody reactive with ceramide trihexoside"
] | [
"Regions adjacent to involved neuronal groups, including nucleus basalis, striatum, globus pallidus, and thalamus, were spared"
] |
fabry:1315715 | Point mutations in the upstream region of the alpha-galactosidase A gene exon 6 in an atypical variant of Fabry disease. | [
"Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene were found in two Japanese cases of the cardiac form of Fabry disease; 301Arg----Gln (902G----A) in a case that has already been published and 279Gln----Glu (835C----G) in a new case. They both expressed markedly low, but sig... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene\n <span style=\"... | [
"cardiac form of Fabry disease",
"classic Fabry disease",
"atypical Fabry disease"
] | [
"Single point mutations in the upstream region of exon 6 of the alpha-galactosidase A gene",
"301Arg----Gln (902G----A)",
"279Gln----Glu (835C----G)",
"different point mutations",
"328Gly----Arg (982G----A) in the downstream region of exon 6",
"two combined mutations, 66Glu----Gln (196G----C)/112Arg----Cy... | null | null | [
"Japanese"
] | [
"markedly low, but significant, amounts of residual activity in COS-1 cells",
"complete loss of enzyme activity"
] | null |
fabry:1546524 | Cerebrovascular manifestations in a female carrier of Fabry's disease. | [
"A female carrier of Fabry's disease with neurological manifestations is presented. An elective ophthalmological examination revealed a whorl keratopathy suggesting that the patient may be a carrier of Fabry's disease. She subsequently suffered two brainstem ischemic events. Cranial MRI examination performed reveal... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"neurological manifestations",
"whorl keratopathy",
"two brainstem ischemic events",
"evidence of multiple subcortical strokes",
"diffuse white matter disease in her frontal lobes",
"cerebrovascular manifestations"
] | null | null | [
"tissue variability of mutant enzyme activity"
] | null |
fabry:1475086 | Ischemic optic neuropathy in a female carrier with Fabry's disease. | [
"We report ocular findings of a patient with anterior ischemic optic neuropathy (AION) and cilioretinal artery occlusion in a female carrier of Fabry's disease. Fluorescein angiography revealed delayed filling of the upper and temporal part of peripapillary choroidal vessels and capillaries of the right optic disk ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report ocular findings of a patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n anterior ischemic optic neuropathy (AION)\n <span style=\"font... | [
"Fabry's disease"
] | null | [
"anterior ischemic optic neuropathy (AION)",
"cilioretinal artery occlusion",
"delayed filling of the upper and temporal part of peripapillary choroidal vessels and capillaries of the right optic disk",
"late filling of the cilioretinal artery",
"thickening of the intraorbital optic nerve",
"ischemic edem... | [
"systemic corticosteroid and urokinase"
] | null | null | [
"AION did not progress"
] |
fabry:1424264 | Angiokeratoma corporis diffusum in a patient with normal enzyme activities and Turner's syndrome. | [
"A case of angiokeratoma corporis diffusum (ACD) involving the skin of a 26-year-old patient with Turner's syndrome presenting with normal physical and mental development is reported. The unusual nature of this association confirms the theory that ACD presenting with skin lesions alone is a rare but specific clinic... | [
"<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-... | [
"Turner's syndrome",
"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:1324819 | Fabry's disease presenting with stroke. | [
"An atypical patient with Fabry's disease is presented. This patient developed a left internal capsule lacunar stroke at the age of 25. The etiology of the stroke was unclear. At the age of 29 he was discovered to have corneal lesions suggestive of Fabry's disease but had no other clinical features typical of Fabry... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An atypical patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"left internal capsule lacunar stroke",
"stroke",
"corneal lesions suggestive of Fabry's disease",
"stroke of unclear etiology"
] | null | null | null | [
"was unclear",
"no other clinical features typical of Fabry's disease"
] |
fabry:1665922 | [Nephropathy in a case of Fabry's disease]. | [
"The present communication describes a 22 year-old male with clinical, biochemical and histopathological signs of Fabry's disease (FD). This is the second case of FD reported in Mexico. The main clinical manifestations of this patient were during puberty: intermittent weakness, acroparesthesias and hypohidrosis. At... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The present communication describes 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; lin... | [
"Fabry's disease (FD)",
"FD",
"FD"
] | null | [
"intermittent weakness",
"acroparesthesias",
"hypohidrosis",
"hypertension",
"moderate renal failure",
"renal symptoms",
"full blown nephrotic syndrome",
"hypertension",
"moderate renal failure"
] | null | [
"Mexico"
] | [
"heavy proteinuria (7-12 g/day)",
"low alfa-galactosidase activity in serum (0.18 nmol/h/mL normal values: 12.8)"
] | null |
fabry:1753437 | A 3' splice site consensus sequence mutation in the intron 3 of the alpha-galactosidase A gene in a patient with Fabry disease. | [
"Fabry disease is an X-linked disorder accompanied with accumulation of glycosphingolipids resulting from the deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-GalA). In the present study, mRNA for alpha-GalA in fibroblasts from an 11-year-old Japanese patient with Fabry disease was examin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"X-linked disorder",
"complete deletion of exon 4 in the mRNA for alpha-GalA",
"single base substitution (G----A) at the 3' end of the consensus sequence of intron 3",
"mutation destroyed a splice site in the alpha-GalA, which produced a mutant allele"
] | null | null | [
"Japanese"
] | [
"deficient activity of the lysosomal hydrolase, alpha-galactosidase A (alpha-GalA)",
"mRNA for alpha-GalA",
"shorter message of alpha-GalA"
] | null |
fabry:1907616 | Lysosomal alpha-N-acetylgalactosaminidase deficiency, the enzymatic defect in angiokeratoma corporis diffusum with glycopeptiduria. | [
"Recently a novel case of angiokeratoma corporis diffusum with glycoaminoaciduria was described in a 46-yr-old Japanese woman. Known causes of the cutaneous manifestation were eliminated by enzyme analyses, and further characterization of the accumulated urinary O-linked sialopeptides revealed identity to those exc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Recently a novel 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\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"infantile neuroaxonal dystrophy",
"infantile neuroaxonal dystrophy",
"infantile neuroaxonal dystrophy",
"severe infantile-onset form of neuroaxonal dystrophy"
] | [
"metabolic defect in this autosomal recessive trait"
] | [
"angiokeratoma corporis diffusum",
"angiokeratoma"
] | null | [
"Japanese"
] | [
"glycoaminoaciduria",
"lysosomal alpha-N-acetylgalactosaminidase deficiency",
"and protein in the proband revealed less than 2% of normal activity",
"absence of detectable immunoreactive enzyme protein",
"alpha-N-acetylgalactosaminidase deficiency",
"enzymatic deficiency",
"alpha-N-acetylgalactosaminida... | [
"Known causes of the cutaneous manifestation",
"were eliminated by enzyme analyses",
"not observed in the nonneural tissues",
"alpha-N-acetylgalactosaminidase deficiency",
"without angiokeratoma or visceral lysosomal inclusions",
"absence of detectable neurologic involvement"
] |
fabry:1654042 | Chemical diagnosis of Fabry's disease by fluorometric assay and fast atom bombardment/mass spectrometry. | [
"We report the results of a fluorometric assay for alpha-galactosidase A (EC.3.2.1.22) in plasma and leukocytes, and fast atom bombardment/mass spectrometry (FAB/MS) analysis of glycosphingolipids in urine sediments from a patient with Fabry's disease. In plasma, this patient had only 5.0% of the normal amount of a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report the results 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 fluorometric assay for alpha-galactosidase A (EC.3.2.1.22) in plasma and leukocyte... | [
"Fabry's disease",
"Fabry's disease"
] | null | null | null | null | [
"In plasma",
"had only 5.0% of the normal amount of alpha-galactosidase A",
"In leukocytes, the activities were below 8.0%"
] | null |
fabry:1924035 | Colonic involvement in Fabry's disease. | [
"The case of a 54 year old man with Fabry's disease and extensive jejunal and colonic diverticulosis causing colonic stricture is presented. Histological examination of the resected colon revealed evidence of ceramide trihexose deposition in the myenteric nerve plexus. Colonic involvement in Fabry's disease has not... | [
"<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 54 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"extensive jejunal and colonic diverticulosis",
"colonic stricture",
"Colonic involvement"
] | null | null | null | null |
fabry:1886355 | [Value of the ophthalmologic examination in diagnosing patients with Anderson-Fabry disease and in heterozygote detection]. | [
"A 45-year-old man with Fabry's disease is presented. 27 relatives are examined. Among the different examinations (serum activity of alpha-galactosidase, urinary excretion of trihexosyl ceramide, renal function, ocular examination) ocular examination remains the easiest and cheapest test for detection of heterozygo... | [
"<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",
"enzymatic defect"
] | [
"heterozygotes"
] | [
"ocular manifestations"
] | null | null | [
"serum activity of alpha-galactosidase",
"urinary excretion of trihexosyl ceramide"
] | null |
fabry:1650161 | Fabry disease: detection of 13-bp deletion in alpha-galactosidase A gene and its application to gene diagnosis of heterozygotes. | [
"Polymerase chain reaction amplification of reverse-transcribed messenger RNA from a patient with Fabry disease revealed a 13-base pair deletion in the 5' region (exon 1) of alpha-galactosidase A complementary DNA. This gene rearrangement was not detected by Southern or Northern analysis. Short direct repeats were ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Polymerase chain reaction amplification of reverse-transcribed messenger RNA from\n <span style=\"font-siz... | [
"Fabry disease",
"Fabry disease heterozygote"
] | [
"13-base pair deletion in the 5' region (exon 1) of alpha-galactosidase A complementary DNA",
"gene rearrangement",
"Short direct repeats were present around the breakpoints",
"normal homozygote"
] | null | null | null | null | [
"not detected by Southern or Northern analysis"
] |
fabry:1849671 | Recurrence of Fabry's disease in a renal allograft eleven years after successful renal transplantation. | [
"A case of Fabry's disease in a renal transplant recipient with a follow-up period of 11 years is reported. The patient suffered from renal, skin, peripheral nerve lesions, and asymptomatic cardiomegaly. Fabry's disease symptoms disappeared after transplantation. Improvement of renal function was rapidly observed, ... | [
"<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 Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease",
"biliary peritonitis"
] | null | [
"renal, skin, peripheral nerve lesions",
"asymptomatic cardiomegaly",
"Fabry's disease symptoms",
"Improvement of renal function",
"died",
"severe, uncontrolled infection",
"Rejection"
] | [
"renal transplant recipient",
"transplantation",
"transplantation",
"organ transplantation"
] | null | [
"high circulating levels of plasma substrates locally overwhelming the enzymatic capability of the graft endothelial cells"
] | [
"engrafted kidney was histologically free of disease"
] |
fabry:1645238 | Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. | [
"A new variant form of Fabry disease with hypertrophic cardiomyopathy of late onset is reported. Two unrelated male hemizygotes of this disease first presented with signs and symptoms of cardiomyopathy after 50 years of age. Cultured lymphoblastoid cells showed significantly higher residual alpha-galactosidase A ac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A new variant form of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Fabry disease"
] | null | [
"hypertrophic cardiomyopathy of late onset",
"signs and symptoms of cardiomyopathy"
] | null | null | [
"significantly higher residual alpha-galactosidase A activities"
] | null |
fabry:1648327 | [Early acroparesthesia in females: a sign disclosing heterozygote Fabry disease]. | [
"Heterozygous Fabry's disease has an inconstant expression and very few complications. The theory of X-chromosome inactivation which, according to Lyon, occurs hazardly, is illustrated by the fact that the disease is expressed even in hemizygous women. Ophthalmic manifestations, as detected by the slit lamp method,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Heterozygous Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Heterozygous Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"heterozygous Fabry's disease"
] | [
"X-chromosome inactivation",
"hemizygous women",
"hemizygous type of the disease"
] | [
"Ophthalmic manifestations",
"verticillate cornea",
"Angiokeratoma",
"Episodes of paraesthesia of the hands and feet",
"paroxysmal acroparaesthesia",
"acroparaesthesia",
"acrocyanosis",
"livedo",
"acro-osteolysis",
"Alterations of the extremities",
"palmar erythema",
"bluish discoloration of t... | null | null | [
"ceramide trihexoside in urine",
"leucocyte alpha-galactosidase levels that were 25 to 30 p. 100 of values obtained in controls",
"10 p. 100 alphagalactosidase level"
] | [
"without history of Fabry's disease"
] |
fabry:2120125 | Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease. | [
"Immunohistochemical and biochemical analyses of several tissues were performed in two unusual cases of Fabry's disease which showed accumulation of globotriaosylceramide (Gal alpha 1-4Gal beta 1-4 Glc-Cer, Gb3Cer) only in the hearts, but no clinical signs of the disease. Immunohistochemical study revealed that the... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Immunohistochemical and biochemical analyses of several tissues\n <span style=\"font-size: 0.8em; font-wei... | [
"Fabry's disease",
"typical Fabry's disease",
"typical Fabry's disease",
"Fabry's disease"
] | null | null | null | null | null | [
"no clinical signs of the disease",
"no accumulation of Gb3Cer was observed in kidney and liver",
"Case no. 1 kidney and liver were not stained by the antibody"
] |
fabry:2127769 | Angiocheratoma corporis diffusum with normal enzyme activities. | [
"A female case of angiokeratoma corporis diffusum without systemic involvement, with alpha-galactosidase A activity in the normal range, alpha-L-fucosidase in the lower levels of the normal range, and a few amount of urinary sialic acid is reported. Some problem about differential diagnosis with inherited disorders... | [
"<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 female\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Fabry's disease",
"fucosidosis",
"sialidosis"
] | [
"inherited disorders"
] | [
"angiokeratoma corporis diffusum",
"angiokeratoma corporis diffusum",
"angiokeratoma corporis diffusum"
] | null | null | [
"alpha-galactosidase A activity in the normal range",
"alpha-L-fucosidase in the lower levels of the normal range",
"few amount of urinary sialic acid",
"enzymatic defect",
"activities could result in the normal range"
] | [
"without systemic involvement",
"without any underlying enzyme defect"
] |
fabry:2172129 | [A case of Fabry's disease detected by renal biopsy findings]. | [
"A 39 year-old man was found to have mild proteinuria by urinary examination since one year ago. He was for the first time diagnosed as having Fabry's disease by histopathological and electronmicroscopic findings of the renal biopsy specimens, which showed the presence of numerous vacuolated cells and electron dens... | [
"<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 39 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 | null | [
"treated by maintenance hemodialysis for 2 years"
] | null | [
"mild proteinuria",
"level of WBC alpha-galactosidase was significantly lower than normal level"
] | null |
fabry:2127372 | [Priapism associated with Fabry's disease]. | [
"We present a rare case of priapism in a child, ten years old, in association with Fabry's disease. The child had a history of disseminated nodular enlargement, crises of fever, intermittent pain in the extremities and ten hours persistent painful erection of the penis. We don't obtain pain or erection relief with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a rare 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; bo... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"priapism",
"disseminated nodular enlargement",
"crises of fever",
"intermittent pain in the extremities",
"ten hours persistent painful erection of the penis",
"sporadic pain in the extremities"
] | [
"irrigation of the corporal bodies",
"saphenous-cavernous shunt, in the Grayhack",
"shunt open"
] | null | [
"deficient alpha-galactosidase"
] | [
"don't obtain pain or erection relief with sedation, epidural block",
"no erection of the penis"
] |
fabry:2164077 | Effect of acid-base changes on urinary hydrolases in Fabry's disease after renal transplantation. | [
"Fabry's disease, which is characterized by alpha-galactosidase A (AG) deficiency, causes early renal failure. Kidney transplants do not reliably supply the deficient enzyme. To assess both urinary excretion of AG by the transplant and the relationship between urine and serum hydrolase activity, acute and chronic a... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"renal disorders"
] | null | [
"early renal failure"
] | [
"renal transplantation",
"intravenous infusion of sodium bicarbonate",
"ingestion of ammonium chloride",
"long-term ingestion of NH4Cl",
"chronic, acidification",
"long-term acidification",
"transplantation"
] | null | [
"alpha-galactosidase A (AG) deficiency",
"urinary excretion of AG by the transplant",
"relationship between urine and serum hydrolase activity",
"alkalosis",
"acidosis",
"Urinary hydrolase excretion was increased",
"acute alkalinization",
"decreased by acute acidification",
"increased the patient's ... | [
"Kidney transplants do not reliably supply the deficient enzyme",
"acid-base conditions"
] |
fabry:2161929 | A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigations. | [
"A Fabry heterozygote with early clinical manifestations of this X linked disorder is described. Her symptoms, including febrile attacks, arthralgia, abdominal pain, and neurological signs, were characteristic of Fabry's disease hemizygotes. The neurological findings were compatible with a brain stem infarction. Th... | [
"<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 Fabry heterozygote\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry heterozygote",
"Fabry's disease hemizygotes"
] | [
"X linked disorder",
"the defective gene in the heterozygote has resulted from a new mutation"
] | [
"early clinical manifestations",
"febrile attacks",
"arthralgia",
"abdominal pain",
"neurological signs",
"neurological findings",
"brain stem infarction"
] | null | null | [
"low activities of alpha-galactosidase A (alpha-galA) in plasma, lymphocytes, and cultured fibroblasts"
] | [
"biochemical and ultrastructural investigations of their cells were also normal"
] |
fabry:2113806 | Relief of chronic burning pain in Fabry disease with neurotropin. | [
"Neurotropin, an extract from the inflamed skin of vaccinia virus-inoculated rabbits, was effective in the relief of sharp or burning pain induced by pyrexia, hot weather, bathing, or exercise in 2 siblings with Fabry disease. Neither neurotropin nor carbamazepine mono-therapy relieved the episodic colicky pain 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 Neurotropin, an extract from the inflamed skin of vaccinia virus-inoculated rabbits\n <span style=\"font-s... | [
"Fabry disease",
"Fabry disease"
] | null | [
"relief of sharp or burning pain induced by pyrexia",
"hot weather",
"eliminated the pain completely"
] | [
"Neurotropin, an extract from the inflamed skin of vaccinia virus-inoculated rabbits",
"bathing",
"exercise",
"therapy with both drugs"
] | null | null | [
"Neither neurotropin nor carbamazepine mono-therapy relieved the episodic colicky pain"
] |
fabry:2161340 | Priapism and Fabry disease: a case report. | [
"A 10-year-old boy presented with priapism of 10 h duration which after unsuccessful conservative measures, was relieved by a saphenocorporeal shunt. A 4-year history of intermittent vague aching of fingers and toes accompanied by low-grade fever was reported. Fabry disease was confirmed by the lack alpha-galactosi... | [
"<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 10-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | null | [
"priapism of 10 h duration",
"intermittent vague aching of fingers and toes",
"low-grade fever",
"renal failure of unknown aetiology"
] | [
"saphenocorporeal shunt"
] | null | [
"lack alpha-galactosidase activity in serum and leucocytes"
] | [
"unsuccessful conservative measures",
"Other characteristic features of Fabry disease were not present"
] |
fabry:2111224 | [Fabry's disease with isolated disease of the cardiac muscle, manifesting as hypertrophic cardiomyopathy]. | [
"A case is presented of Fabry's disease manifesting in an adult (aged 64) as hypertrophic nonobstructive cardiomyopathy caused by massive ceramidtrihexoside storage confined exclusively to the cardiocytes. There was no storage detectable in capillaries or in any other structure of the organs examined (liver, pancre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case is presented 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... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"hypertrophic nonobstructive cardiomyopathy",
"heart failure slowly progressing during the last fifteen years of the",
"pulmonary thromboembolism",
"cardiological syndromes"
] | null | null | [
"alpha galactosidase activity in each of his four daughters was in heterozygous range"
] | [
"no storage detectable in capillaries or in any other structure of the organs examined (liver, pancreas, brain, aorta, pulmonary artery, coronary arteries, heart valves)",
"no clinical signs of ocular, renal or skin affection",
"no unfixed tissues were available for enzyme analysis"
] |
fabry:2157788 | Biochemical and clinical analysis of accumulated glycolipids in symptomatic heterozygotes of angiokeratoma corporis diffusum (Fabry's disease) in comparison with hemizygotes. | [
"Angiokeratoma corporis diffusum (Fabry's disease) is an X-linked disorder of glycosphingolipid catabolism. Heterozygous females, although usually asymptomatic, are occasionally as severely afflicted as hemizygous males; recently we identified a heterozygous patient with cardiomyopathy and severe pain in the extrem... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Fabry's disease)",
"disorder of glycosphingolipid catabolism"
] | [
"X-linked",
"Heterozygous",
"hemizygous males",
"heterozygous",
"hemizygote",
"hemizygotic"
] | [
"Angiokeratoma corporis diffusum",
"cardiomyopathy",
"severe pain in the extremities",
"cardiac involvement"
] | null | null | [
"the alpha-galactosidase activity in the heart, liver, and kidney of the heterozygote",
"was 17%, 26%, and 36%, respectively, of normal controls",
"low alpha-galactosidase activities"
] | [
"asymptomatic"
] |
fabry:2155532 | Demonstration of Fabry's disease deposits in placenta. | [
"Involvement of the placenta by glycosphingolipid deposits in Fabry's disease has not been previously reported. We describe the presence of such deposits in the maternal half of a placenta obtained from a heterozygous carrier of the disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Involvement of the placenta by glycosphingolipid deposits\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Fabry's disease"
] | [
"heterozygous carrier of the disease"
] | null | null | null | null | null |
fabry:2112657 | [Clinico-pathological features in four patients with Fabry's disease. The possible role of degenerative lesions in the interstitial vessels in renal dysfunction]. | [
"Clinical courses and histopathological changes of four patients with Fabry's disease were discussed in this report. All of them were male and revealed to have angiokeratomas of the skin and markedly decreased activity of alpha-galactosidase--A in leukocytes. They were from different families. No consanguinity was ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Clinical courses and histopathological changes of 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 Fabry's disease\n <span style=\"font-... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"angiokeratomas of the skin",
"rapid impairment of renal function",
"hypertension",
"months",
"remarkable swelling of intima",
"hypertension",
"rapid deterioration of renal function"
] | null | null | [
"markedly decreased activity of alpha-galactosidase--A in leukocytes",
"uremia"
] | [
"renal functions were almost normal",
"No significant changes"
] |
fabry:2105640 | Renal changes in heterozygous Fabry's disease--a family study. | [
"Two sisters, one with a long history of proteinuria and the other of hematuria, came for examination. Physical examination and routine laboratory workups did not show any significant abnormalities. The renal ultrastructural changes in case 1 showed marked enlargement and foamy vacuolation of all the glomerular cap... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Two sisters, one with a long history of proteinuria and the other of hematuria\n <span style=\"font-size: ... | [
"heterozygous Fabry's disease"
] | [
"heterozygous variety of Fabry's disease"
] | [
"similar lesions",
"renal symptoms"
] | null | null | [
"serum alpha-galactosidase activity was 4.9 and 3.0 nmol/h/mL serum, respectively (normal values, 12.1 +/- 1.6 nmol/h/mL serum",
"proteinuria",
"hematuria"
] | [
"routine laboratory workups did not show any significant abnormalities"
] |
fabry:2173254 | Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy. | [
"Fabry's disease was diagnosed in an adult patient as a lipid storage-induced non-obstructive hypertrophic cardiomyopathy. Stable angina pectoris started 15 years before death, was followed by slowly progressive heart failure and repeated pulmonary thromboembolism with death at 63 years. Autopsy disclosed enormous ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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-induced non-obstructive hypertrophic cardiomyopathy",
"monosymptomatic novel variant of Fabry's disease"
] | null | [
"Stable angina pectoris",
"death",
"slowly progressive heart failure",
"repeated pulmonary thromboembolism",
"death",
"enormous cardiomegaly (1100 g)"
] | null | null | [
"Alpha-galactosidase activities in peripheral leucocytes of all four of the patient's daughters were in the heterozygous range"
] | [
"Other tissues (liver, kidney, brain, pancreas, pulmonary artery, coronary arteries) were free of storage",
"enzymatically degradable by control cell cultures but left uncleaved by mutant reference Fabry cells"
] |
fabry:2561653 | [Fabry's disease: kidney insufficiency in heterozygous patient]. | [
"We report a rare heterozygous status for Fabry's gene with severe kidney involvement and normal alpha-galactosidase A activity, together with the intrafamilial variations in the clinical expression of the disease. The random X inactivation hypothesis seems to explain such a variable expression of the alpha-galacto... | [
"<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 rare heterozygous status for Fabry's gene\n <span style=\"font-size: 0.8em; font-weight: bold;... | null | [
"rare heterozygous status for Fabry's gene",
"random X inactivation hypothesis",
"variable expression of the alpha-galactosidase gene"
] | [
"severe kidney involvement"
] | null | null | null | [
"normal alpha-galactosidase A activity"
] |
fabry:2510982 | Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease). | [
"Fabry-Anderson's disease or angiokeratoma corporis diffusum (ACD) is an X-linked sphingolipidosis with a systemic character and occurs in 2-5 per million births (1-3). The basic defect is the absence of a lysosomal enzyme x-galactosidase A. This enzyme is necessary for the metabolization of ceramide trihexoside (g... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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-Anderson's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Fabry-Anderson's disease",
"(ACD)",
"sphingolipidosis",
"established ACD",
"ACD",
"hypoplastic amelogenesis imperfecta"
] | [
"X-linked",
"rare X-linked disorder"
] | [
"angiokeratoma corporis diffusum",
"cutaneous angiokeratoma's",
"severe pain in the limbs",
"progressive renal insufficiency",
"cardiovascular and cerebrovascular damage",
"gastrointestinal symptoms",
"mild diarrhea",
"Anorexia",
"weight loss",
"diarrhea",
"limb pain"
] | null | null | null | null |
fabry:2504516 | Angiokeratoma corporis diffusum in GM1 gangliosidosis, type 1. | [
"A patient with severe deficiency of beta-galactosidase, who developed skin lesions of angiokeratoma corporis diffusum between the 3rd and 10th month of life, is described. The activity of other lysosomal enzymes, including alpha-neuraminidase, was normal. The first signs of the disease were noticed during the firs... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe deficiency of beta-galactosidase\n <span style=\"font-size: 0.8em; font-weight: bold... | [
"GM1 gangliosidosis, Type 1",
"lysosomal disorders",
"GM1 gangliosidosis"
] | null | [
"skin lesions of angiokeratoma corporis diffusum",
"coarseness of the face",
"psychomotor retardation",
"angiokeratoma",
"large mongolian spots",
"several scattered slate-blue spots of pigmentation over his body",
"skin lesions",
"psychomotor deterioration",
"Angiokeratoma"
] | null | null | [
"severe deficiency of beta-galactosidase"
] | [
"activity of other lysosomal enzymes, including alpha-neuraminidase, was normal"
] |
fabry:2500499 | Accumulation of glycosphingolipids in spinal and sympathetic ganglia of a symptomatic heterozygote of Fabry's disease. | [
"Fabry's disease is an X-linked disorder of glycolipid catabolism. We have found a symptomatic heterozygous female with cardiomyopathy and severe pain in the extremities. We studied histochemically and biochemically the accumulated glycolipids in spinal and sympathetic ganglia of the patient. Histochemical examinat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 glycolipid catabolism"
] | [
"X-linked",
"heterozygous",
"heterozygous males",
"heterozygous",
"heterozygous"
] | [
"cardiomyopathy",
"severe pain in the extremities"
] | null | null | null | null |
fabry:2497691 | Otologic histopathology of Fabry's disease. | [
"Fabry's disease is a rare progressive X-linked recessive disorder of glycosphingolipid metabolism. The accumulation of glycosphingolipids occurs in virtually all areas of the body, including the endothelial, perithelial, and smooth-muscle cells of blood vessels, the ganglion cells of the autonomic nervous system, ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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",
"rare disorder"
] | [
"rare progressive X-linked recessive"
] | [
"otologic symptoms",
"bilateral sloping sensorineural hearing loss",
"Middle ear findings",
"seropurulent effusions",
"hyperplastic mucosa were seen in all four temporal bones",
"Strial and spiral ligament atrophy in all turns",
"hair cell loss mainly in the basal turns"
] | null | null | null | [
"evidence of glycosphingolipid accumulation was not observed in the spiral ganglia"
] |
fabry:2564952 | Novel lysosomal glycoaminoacid storage disease with angiokeratoma corporis diffusum. | [
"A 46-year-old Japanese woman had disseminated angiokeratoma, confirmed by electron microscopy which showed numerous cytoplasmic vacuoles in cells of the kidney and skin. Enzyme activities against synthetic and natural substrates in leucocytes and fibroblasts were normal. Her urine contained a large amount of sialy... | [
"<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; ... | [
"disseminated angiokeratoma"
] | null | null | null | [
"Japanese"
] | [
"urine contained a large amount of sialylglycoaminoacids"
] | [
"Enzyme activities against synthetic and natural substrates in leucocytes and fibroblasts were normal"
] |
fabry:2504843 | [Transvenous permanent pacemaker implantation for Fabry's disease. 3 cases report]. | [
"Three men with Fabry's disease (angiokeratoma corporis diffusum universal) are described. In the first patient, atrial fibrillation appeared, and a permanent cardiac pacemaker (VVI) was implanted. Sick sinus syndrome with complete atrioventricular block was occurred on the second patient. Transvenous pacemaker (DD... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n men\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Fabry's disease",
"Sick sinus syndrome",
"Fabry's disease",
"disorder of glycosphingolipid metabolism"
] | null | [
"angiokeratoma corporis diffusum universal",
"atrial fibrillation",
"complete atrioventricular block",
"complete atrio-ventricular block",
"Cardiac involvement",
"abnormal electrocardiographic manifestations",
"severe bradycardia"
] | [
"permanent cardiac pacemaker (VVI) was implanted",
"Transvenous pacemaker (DDD) implantation",
"cardiac pace maker (VAT) was implanted",
"Permanent cardiac pacemaker"
] | null | [
"low value of granulocyte's alpha-galactosidase activity"
] | [
"no trouble about pacemaking"
] |
fabry:3143258 | Lymphadenopathy and entero-vesical fistula in Fabry's disease. | [
"A case of a 55-year-old man with known Fabry's disease, complicated by entero-vesical fistula and associated with enlarged mesenteric lymph nodes, is reported. Histopathologic and ultrastructural findings of the involved lymph nodes are described, and pathogenesis of the entero-vesical fistula is briefly discussed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 55-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"entero-vesical fistula",
"enlarged mesenteric lymph nodes",
"entero-vesical fistula",
"urologic complication"
] | null | null | null | null |
fabry:2977798 | [Four cases of Fabry's disease mimicking hypertrophic cardiomyopathy]. | [
"Four patients with Fabry's disease diagnosed by right ventricular endomyocardial biopsy had cardiac manifestations simulating hypertrophic cardiomyopathy (HCM). Case 1: A 51-year-old woman, whose elder sister had congestive heart failure, was hospitalized for exertional dyspnea and cardiomegaly. Her electrocardiog... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Fabry's disease",
"hypertrophic cardiomyopathy (HCM)",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"HCM"
] | [
"genetic factors"
] | [
"cardiac manifestations",
"exertional dyspnea",
"cardiomegaly",
"short PQ interval (0.10 sec)",
"left ventricular hypertrophy",
"moderate symmetrical hypertrophy of the left ventricle (IVST/PWT = 18 mm/17 mm)",
"ECG abnormalities",
"short PQ interval (0.10 sec) and ST-T changes in the left precordial ... | null | null | [
"were increased biochemically"
] | null |
fabry:2843064 | Angiokeratoma corporis diffusum (Fabry's disease) with unusual features in a female patient. Light- and electron-microscopic investigation. | [
"A case of clinically apparent angiokeratoma corporis diffusum (Fabry's disease) in an adult female carrier is presented. The patient had biochemical evidence of the disease, and showed multiple cutaneous lesions, in the absence of other major organ involvement. Ultrastructural examination of tissue fragments obtai... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of clinically apparent \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-weigh... | [
"Fabry's disease)"
] | null | [
"angiokeratoma corporis diffusum",
"biochemical evidence",
"multiple cutaneous lesions",
"high blood pressure",
"angiomatous arteriovenous shunts"
] | null | null | null | [
"absence of other major organ involvement",
"failed to reveal small amounts of the stored glycolipid"
] |
fabry:3391063 | Oral inflammatory changes as an initial manifestation of Crohn's disease antedating abdominal diagnosis. Report of a case. | [
"The case of a 14-year-old boy who had oral ulcers with histologic proof of granulomatous disease nine months before the diagnosis of intestinal Crohn's disease is presented. Additional extraintestinal manifestations of this case were cheilitis, anal fissures, and \"metastatic\" disease to the umbilicus. The diagno... | [
"<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 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"intestinal Crohn's disease"
] | null | [
"oral ulcers",
"histologic proof of granulomatous disease",
"extraintestinal manifestations",
"cheilitis",
"anal fissures",
"\"metastatic\" disease to the umbilicus",
"abdominal symptoms"
] | [
"systemic prednisone, sulfasalazine, and metronidazole"
] | null | null | null |
fabry:3150446 | [Echocardiographic findings in a case of Fabry's disease with aortic regurgitation and complete AV block, and in his family members]. | [
"A 46-year-old man with Fabry's disease having aortic regurgitation and complete atrioventricular (AV) block was presented. In spite of severe aortic regurgitation (Seller's grade 3/4), his two-dimensional (2-D) echocardiogram revealed increased thickness of the left ventricular wall with mild dilatation. The myoca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 46-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"heterozygous",
"heterozygous"
] | [
"aortic regurgitation",
"complete atrioventricular (AV) block",
"severe aortic regurgitation (Seller's grade 3/4)",
"increased thickness of the left ventricular wall",
"mild dilatation",
"fine granular sparkling texture suggesting phospholipid deposition in the myocardial tissue",
"The membranous portio... | [
"DDD pacemaker was implanted"
] | null | null | [
"Valvular replacement was not attempted",
"no valvular abnormalities",
"no cardiac symptoms",
"normal left ventricular wall thicknesses",
"normal ECG"
] |
fabry:3133979 | Nervous system involvement in Fabry's disease: clinicopathological and biochemical correlation. | [
"A detailed neuropathological and biochemical study was performed to evaluate the accumulation of ceramide trihexoside within the central and peripheral nervous systems of 2 patients with Fabry's disease. Luxol fast blue-staining lipid was noted in the leptomeninges and in the choroidal stroma; biochemical studies ... | [
"<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 detailed neuropathological and biochemical study\n <span style=\"font-size: 0.8em; font-weight: bold; li... | [
"Fabry's disease"
] | null | [
"specific cortical and brainstem structures"
] | null | null | null | null |
fabry:3139461 | An unusual cause of lymphoedema--confirmed by isotopic lymphangiography. | [
"We describe here a rare case of lymphoedema (Anderson-Fabry's disease) and its examination using isotopic lymphography. Anderson-Fabry's disease gives rise to various multisystem problems including lymphoedema which are all secondary to the deposition of glycosphingolipids in venous tissue. The prognosis particula... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe here a rare 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 lymphoedema (Anderson-Fabry's disease)\n <span style=\"font-size: 0.8em; f... | [
"lymphoedema (Anderson-Fabry's disease)",
"Anderson-Fabry's disease"
] | [
"homozygote males"
] | [
"multisystem problems",
"lymphoedema"
] | null | null | null | null |
fabry:3128256 | Severe orthostatic hypotension in a female carrier of Fabry's disease. | [
"A 21-year-old woman in a family with a history of Fabry's disease showed orthostatic hypotension and whorl-like corneal opacity typical for Fabry's disease. Biochemical studies revealed that she was a heterozygote of the Fabry gene. A variety of autonomic function tests demonstrated both sympathetic and parasympat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | [
"heterozygote of the Fabry gene",
"heterozygous"
] | [
"orthostatic hypotension",
"whorl-like corneal opacity typical for Fabry's disease",
"both sympathetic and parasympathetic dysfunction",
"dysfunction of the autonomic nervous system"
] | null | null | null | null |
fabry:2975703 | [Myocardial involvement in female Fabry's disease: evaluation by thallium-201 myocardial scintigraphy]. | [
"Fabry's disease is characterized by an inherited X-linked disorder of glycosphingolipid catabolism, and heterozygous women affected with this disease who show overt symptoms including cardiac manifestations have rarely been reported. To elucidate the features of myocardial involvement in female patients, noninvasi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"inherited X-linked",
"heterozygous"
] | [
"overt symptoms",
"cardiac manifestations",
"myocardial involvement",
"negative T waves were shown in leads III and aVF",
"Left ventricular high voltage",
"giant negative T waves",
"short PR intervals",
"monofocal ventricular premature beats",
"positive ST changes",
"uptake of thallium-201 was enh... | null | null | [
"low leucocytic alpha-galactosidase activities of less than 48% of normal (67.92-16.2 nmol/mg protein/h)"
] | [
"neither valvular change nor left ventricular hypertrophy",
"no apical thickening was noticed in any of the three cases by 2-D Echo"
] |
fabry:3151983 | Manifestation of angiokeratoma diffusum in a girl patient with heterozygous genotype for Fabry disease. | [
"The case of a 16 years old girl patient having angiokeratoma corporis diffusum with Fabry heterozygosity is published together with the clinical and genetical screening investigations of the family members. The problem of the detection of the heterozygotes is discussed."
] | [
"<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 16 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry heterozygosity"
] | [
"heterozygotes"
] | [
"angiokeratoma corporis diffusum"
] | null | null | null | null |
fabry:3136413 | Several functional and fluorescein fundus angiographic findings in Fabry's disease. | [
"Fabry's disease has well-known characteristic morphological findings, i.e., the whorl-like corneal opacity and the posterior spoke-like cataract, etc. But its functional aspect has not been investigated fully. Thus, a 47-year-old male with Fabry's disease was examined with Cochet-Bonnet's esthesiometer, photokerat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | null | [
"whorl-like corneal opacity",
"posterior spoke-like cataract",
"corneal opacity",
"cataract",
"retinal and conjunctival vascular tortuosity",
"choroidal vascular disturbance",
"delayed retinal circulation time"
] | null | null | null | [
"Most of functional findings remained normal",
"significant functional disturbance has not developed"
] |
fabry:3119682 | Generalized anhidrosis associated with Fabry's disease. | [
"A 28-year-old Korean man suffered from generalized acquired anhidrosis and heat intolerance that were confirmed by a sweat test. Other clinical features consistent with Fabry's disease were fever and severe pain of the lower extremities and leg edema. Although the patients lacked cutaneous angiokeratomas, ultrastr... | [
"<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; ... | [
"Fabry's disease"
] | null | [
"generalized acquired anhidrosis",
"heat intolerance",
"fever",
"severe pain of the lower extremities",
"leg edema"
] | null | [
"Korean"
] | [
"alpha-Galactosidase assay of the patient's leukocytes",
"markedly decreased activity"
] | [
"lacked cutaneous angiokeratomas"
] |
fabry:3153320 | Autosomal dominant hypophosphataemia with elevated serum 1,25 dihydroxyvitamin D and hypercalciuria. | [
"A 14-year-old boy presented with the clinical and radiological features of rickets. Serum inorganic phosphate levels were constantly low, whereas serum calcium and parathyroid hormone levels were within the normal range. Laboratory investigation did not show any evidence for vitamin-D deficiency, chronic renal ins... | [
"<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 14-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hepatic disease",
"hereditary syndrome of renal hypophosphataemia",
"autosomal recessive hypophosphataemic rickets",
"hypophosphataemic non-rachitic bone disease"
] | [
"familial X-linked hypophosphataemia",
"dominant mode of inheritance"
] | [
"clinical and radiological features of rickets",
"intestinal malabsorption"
] | null | null | [
"Serum inorganic phosphate levels were constantly low",
"tubular acidosis",
"hypophosphataemia",
"normocalcaemia",
"elevated serum 1,25 dihydroxyvitamin D levels",
"hypercalciuria",
"hypercalciuria",
"elevated serum 1,25 dihydroxyvitamin D levels",
"hypercalciuria"
] | [
"serum calcium and parathyroid hormone levels were within the normal range",
"not show any evidence for vitamin-D deficiency",
"chronic renal insufficiency",
"Fanconi syndrome"
] |
fabry:3107860 | Renal biopsy in Fabry's disease eight years after successful renal transplantation. | [
"Late graft histology after renal transplantation for Fabry's disease has only once been previously reported. Clinical data and kidney biopsy findings in a case of Fabry's disease before and eight years after successful kidney transplantation are presented. The graft maintains normal function. Graft histology in li... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Late graft histology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"Late graft histology"
] | [
"renal transplantation",
"successful kidney transplantation"
] | null | null | [
"graft maintains normal function",
"no abnormalities reminiscent of the diseased native kidney"
] |
fabry:3105563 | A case of heterozygous Fabry's disease with a short PR interval and giant negative T waves. | [
"A 55 year old woman with heterozygous Fabry's disease presented with cardiac symptoms. The electrocardiogram showed a PR interval of 0.12 s and giant negative T waves, suggesting apical hypertrophic cardiomyopathy. Endomyocardial biopsy, however, revealed myelin like substances characteristic of Fabry's disease. I... | [
"<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 55 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"
] | [
"heterozygous Fabry's disease"
] | [
"cardiac symptoms",
"PR interval of 0.12 s",
"giant negative T waves",
"apical hypertrophic cardiomyopathy",
"Increasing thickness of the left ventricular wall",
"cardiomegaly of unknown cause",
"electrocardiographic abnormalities",
"PR interval less than or equal to 0.12 s",
"high voltage QRS compl... | null | null | [
"deficiency of alpha galactosidase activity in the leucocytes"
] | [
"neither angiokeratoma or proteinuria"
] |
fabry:3120588 | Involvement of renal allograft by Fabry's disease. | [
"A man with Fabry's disease received a renal allograft from a heterozygous sister. Renal allograft dysfunction necessitated an allograft biopsy 5.5 years after transplantation. Extensive accumulation of Fabry's disease deposits in the glomeruli, tubules, blood vessels and interstitium was noted."
] | [
"<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 man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"Fabry's disease"
] | null | [
"Renal allograft dysfunction"
] | [
"received a renal allograft from a heterozygous sister",
"transplantation"
] | null | null | null |
fabry:3117021 | [Visceral manifestations of glycosphingolipidosis (Fabry's disease)]. | [
"Fabry's disease is glycolipid sphingolipidosis which belongs to the group of lipid storage diseases and has as its underlying cause congenital deficiency of alpha-galactosidase. The pathologic anatomy of visceral lesions is described at the macroscopic, light-optical, and electron-microscopic levels in a 50-year-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 Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"glycolipid sphingolipidosis",
"lipid storage diseases",
"Fabry's disease",
"Fabry's disease"
] | null | [
"visceral lesions",
"striking systemic manifestations",
"lesions typical for glycolipid sphingolipidosis",
"atherosclerosis involving primarily heart arteries",
"cutaneous lesions",
"angiokeratoma corporis diffusum",
"skin involvement"
] | null | null | [
"congenital deficiency of alpha-galactosidase"
] | null |
fabry:2821332 | [Anderson-Fabry disease. Current status. Apropos of a case]. | [
"After submitting a typical case of Anderson-Fabry disease in a 38 years old male, we discuss the eminent aspects of this metabolic disorder and, above all, the clinical, biochemical and ultrastructural problems of diagnosis in the heterozygotic relatives."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">After submitting a typical 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 Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: b... | [
"Anderson-Fabry disease",
"metabolic disorder"
] | null | null | null | null | null | null |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.