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:3099372 | [Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. | [
"A man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n man\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertical... | [
"chronic meningitis",
"severe biologic febrile syndrome",
"Fabry's disease",
"Fabry's disease",
"fever"
] | null | [
"multiple symptoms",
"acroparesthesia",
"familial deafness",
"cardiomyopathy",
"diarrhea",
"renal failure",
"intermittent fever",
"feverish attacks",
"temperature of 40 degrees C",
"persistent inflammatory syndrome"
] | null | null | [
"pancytopenia with a dense marrow"
] | null |
fabry:3095985 | [Biochemical diagnosis of Anderson-Fabry disease in two brothers]. | [
"Activity of several lysosomal enzymes was studied in leukocytes, blood plasma and skin fibroblasts of two adult brothers with clinical diagnosis of Fabry disease. Activity of ceramide trihexoside-galactosidase was distinctly decreased in both patients. The residual enzymatic activity constituted 5-6% in the patien... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Activity of several lysosomal enzymes\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"Fabry disease",
"Fabry disease"
] | null | null | null | null | [
"Activity of several lysosomal enzymes",
"in leukocytes, blood plasma",
"Activity of ceramide trihexoside-galactosidase was distinctly decreased",
"The residual enzymatic activity constituted 5-6% in the patients leukocytes, less than 10% in blood plasma and 25% in fibroblasts"
] | null |
fabry:3095413 | Ocular manifestations of Fabry's disease. | [
"A 52-year-old black female teacher's aide presented for an eye examination with a complaint of progressively worsening vision, stinging and burning of the eyes, and occasional foreign body sensation. Examination revealed a dry eye syndrome and corneal dystrophy consistent with Fabry's disease, a cardiovascular dis... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 52-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"dry eye syndrome",
"Fabry's disease",
"cardiovascular disease"
] | null | [
"progressively worsening vision",
"stinging and burning of the eyes",
"occasional foreign body sensation",
"corneal dystrophy",
"significant systemic as well as ocular findings",
"acute corneal symptoms",
"dystrophic corneal changes"
] | [
"teacher's"
] | [
"black"
] | null | null |
fabry:3087663 | Cardiovascular manifestations in Fabry's disease. A high incidence of mitral valve prolapse in hemizygotes and heterozygotes. | [
"Cardiovascular manifestations of Fabry's disease were studied clinically in 10 hemizygous males and 13 heterozygous females. Mitral valve prolapse was found in 5 of 9 hemizygotes and in 5 of 13 heterozygotes examined by echocardiography. Ordinary medical examinations revealed cardiomyopathy in some asymptomatic fe... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Cardiovascular manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Fabry's disease",
"Fabry heterozygote",
"Fabry's disease",
"Fabry"
] | [
"hemizygous males",
"heterozygous",
"hemizygotes"
] | [
"Cardiovascular manifestations",
"Mitral valve prolapse",
"cardiomyopathy",
"Renovascular hypertension of juvenile onset",
"thromboembolism",
"mitral valve prolapse",
"cardiomyopathy",
"renovascular hypertension",
"thrombosis of unknown etiology",
"cardiovascular involvements"
] | null | null | [
"low alpha-galactosidase activity in leukocytes"
] | [
"asymptomatic"
] |
fabry:3086855 | Short PR intervals and tachyarrhythmias in Fabry's disease. | [
"Two brothers with Fabry's disease presenting with palpitations were found to have intermittent supraventricular tachycardias. Their electrocardiograms, when symptom-free, revealed short PR intervals consistent with ventricular pre-excitation. Treatment of one of the brothers with verapamil resulted in improvement ... | [
"<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 brothers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"palpitations",
"intermittent supraventricular tachycardias",
"short PR intervals consistent with ventricular pre-excitation",
"improvement of the palpitations",
"reduction in frequency of the tachycardia",
"Recurrent supraventricular tachycardia associated with ventricular pre-excitation"
] | [
"verapamil"
] | null | null | [
"when symptom-free"
] |
fabry:3085380 | [Fabry disease, a disease with rheumatic aspects: radiology of soft tissue and bone changes in the hand]. | [
"Fabry's disease is a hereditary lipid storage disease with deposition of ceramides in nearly all tissues. The lipid deposition in the skin and the synovial compartments causes an enlargement of the skin, the joint capsules and the tendon sheaths, which are recognizable by low KV radiography. The bones of the hand ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lipid storage disease",
"inflammatory rheumatic disease"
] | [
"hereditary"
] | [
"enlargement of the skin, the joint capsules and the tendon sheaths",
"The bones of the hand",
"multiple enthesopathic ossifications of a peculiar kind at the insertions of fibrous structures",
"few intra- and extraarticular erosions"
] | null | null | null | null |
fabry:3934620 | Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote. | [
"Fabry's disease is an X-linked recessive inborn error of metabolism, caused by a deficiency of alpha galactosidase A. This report describes a heterozygote patient with multiple system problems diagnosed eventually as Fabry's disease by the ocular findings. The clinical diagnosis was confirmed by enzymatic assay. 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",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease",
"Chloroquin keratopathy",
"Amiodarone keratopathy"
] | [
"X-linked recessive inborn error of metabolism",
"heterozygote",
"heterozygote"
] | [
"multiple system problems",
"ocular findings",
"non-ocular manifestations",
"ultra-structural changes in the cornea and conjunctiva",
"clinical and ultra-structural similarities of the deposits"
] | null | null | null | null |
fabry:28164951 | Fabry's Disease. | [
"A case of Fabry' disease (angiokeratoma corporis diffusum universale) is reported. Presence of uncommon physical thick lips, large ears and proportion are high - lighted."
] | [
"<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' disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"Fabry' disease",
"angiokeratoma corporis diffusum universale)"
] | null | [
"Presence of uncommon physical thick lips",
"large ears",
"proportion are high - lighted"
] | null | null | null | null |
fabry:2984338 | Fabry's disease with partially deficient hydrolysis of ceramide trihexoside. | [
"A report is presented on biochemical studies of the fibroblasts from a 26-year-old man with Fabry's disease whose clinical picture was atypical. The patient had severe pain in the extremities, but no angiokeratomas, corneal clouding or hypohidrosis. The trihexosylceramidase activity in the fibroblasts in vitro was... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A report is presented 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 biochemical studies\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Fabry's disease",
"Fabry's"
] | null | [
"severe pain in the extremities",
"corneal clouding"
] | null | null | [
"The trihexosylceramidase activity in the fibroblasts in vitro was deficient",
"level and Km value of the residual activity were similar to levels seen",
"partial defect in hydrolysis of trihexosylceramide"
] | [
"no angiokeratomas",
"hypohidrosis"
] |
fabry:3932226 | Progressive cardiac involvement by Fabry's disease despite successful renal allotransplantation. | [
"Enzyme replacement by renal allotransplantation has been suggested as a specific mode of therapy for Fabry's disease. We report a case of Fabry's disease who developed symptoms and signs of heart failure despite successful renal transplantation 14 years ago. Echo- and angiocardiographic features resembled findings... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzyme replacement by renal allotransplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"symptoms and signs of heart failure",
"Echo- and angiocardiographic features",
"hypertrophic non-obstructive cardiomyopathy"
] | [
"Enzyme replacement by renal allotransplantation"
] | null | null | [
"despite successful renal transplantation"
] |
fabry:3918523 | Diagnostic value of kidney biopsy in heterozygous Fabry's disease. | [
"We studied a case of abnormal renal pathologic findings in a female patient that were suggestive of Fabry's disease. Except for corneal clouding, no other clinical findings were consistent with this diagnosis. The serum and urinary enzyme levels were all within normal limits; the ceramide trihexoside level was sli... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We studied 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 abnormal renal pathologic findings\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Fabry's disease",
"storage diseases"
] | null | [
"abnormal renal pathologic findings",
"corneal clouding",
"renal lesions"
] | null | null | [
"ceramide trihexoside level was slightly increased in the urine"
] | [
"no other clinical findings were consistent with",
"serum and urinary enzyme levels were all within normal limits"
] |
fabry:3027448 | Biochemical phenotyping of a single sibship with both cystinosis and Fabry disease. | [
"Two lysosomal storage diseases, cystinosis and Fabry disease, were diagnosed clinically in different members of a single sibship. The possibility that the affected sister and brother might have related disorders with disparate manifestations was pursued. The four principal family members were tested for heterozygo... | [
"<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 lysosomal storage diseases\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"lysosomal storage diseases",
"cystinosis",
"Fabry disease",
"cystinosis",
"Fabry disease"
] | [
"classical autosomal recessive inheritance",
"X-linked inheritance"
] | null | null | null | [
"serum and leukocyte alpha-galactosidase A activity",
"urinary trihexosylceramide excretion",
"capacity to engage in cystine counter-transport across leukocyte lysosome membranes"
] | null |
fabry:2996471 | [Ultrastructural changes in the skin of patients with Fabry's angiokeratoma]. | [
"The skin of a patient with Fabry's diffuse angiokeratoma accompanied by a severe decrease of leucocyte alpha-galactosidase (0,7-1,2 nmol/mg protein/h) was studied by a method of semithin and ultrathin sections. Cytoplasmic inclusions having lamellar structure in the form of alternating electron-dense and light str... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The skin 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 Fabry's diffuse angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Fabry's diffuse angiokeratoma",
"angiokeratomas",
"skin angiomas"
] | null | null | null | null | [
"severe decrease of leucocyte alpha-galactosidase (0,7-1,2 nmol/mg protein/h)",
"decrease of leucocytic alpha-galactosidase"
] | null |
fabry:2995736 | [Angiokeratoma corporis diffusum (Fabry's disease). Update. Apropos of 2 cases]. | [
"Fabry's disease (angiokeratoma corporis diffusum) is an X-linked recessive inherited metabolic defect due to the lack of the enzyme alpha-galactosidase A. We reviewed the Argentine literature on the subject, the main features of the disease and its differential diagnosis. Two patients aged ten and fifteen are desc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
")"
] | [
"X-linked recessive inherited metabolic defect"
] | [
"angiokeratoma corporis diffusum"
] | null | [
"Argentine"
] | [
"Plasma levels of alpha-galactosidase activity were sharply decreased",
"partially decreased"
] | null |
fabry:2982342 | Fabry's disease in a heterozygous woman. | [
"Fabry's disease is a rare, X-linked disorder of glycolipid metabolism that is usually recognized in men in the third and fourth decades of life. A heterozygous state in women has been documented, but reports about women who are affected are confined to isolated case reports and to rare small series. We report a ca... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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 metabolism",
"Fabry's disease"
] | [
"rare, X-linked"
] | null | null | null | [
"persistent proteinuria"
] | [
"without the need of multiple extra tissue sections and special stains"
] |
fabry:6441859 | [Significance of early ophthalmologic detection of Fabry disease]. | [
"A case of cornea verticillata discovered by chance is reported; as a result of this finding, a mother and daughter were found to be heterozygous carriers of Fabry's disease. The ocular and internal symptoms as well as the biochemical analysis are discussed. Early ophthalmologic diagnosis is essential. The patient ... | [
"<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 cornea verticillata\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | null | null | [
"cornea verticillata",
"ocular and internal symptoms"
] | null | null | null | null |
fabry:6098121 | Corneal findings in a foetus with Fabry's disease. | [
"The cornea of a 22-week foetus with Fabry's disease was examined biochemically and histopathologically. The alpha-galactosidase activity in the cornea was very low compared with that of the normal control. Histopathologic examination revealed that intracytoplasmic lamellar bodies surrounded by a single membrane we... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The cornea 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 22-week foetus\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border... | [
"Fabry's disease"
] | null | null | null | null | [
"The alpha-galactosidase activity in the cornea was very low compared with that of"
] | null |
fabry:6435542 | beta-Galactosidase and neuraminidase deficiency associated with angiokeratoma corporis diffusum. | [
"A 17-year-old Japanese boy was found to have ataxia, generalized angiokeratomas, skeletal deformities, visual impairment, and macular cherry-red spots, without hepatomegaly, splenomegaly, or renal failure. Laboratory examination disclosed a deficiency of beta-galactosidase as well as of neuraminidase activity in t... | [
"<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 17-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"ataxia",
"generalized angiokeratomas",
"skeletal deformities",
"visual impairment",
"macular cherry-red spots"
] | null | [
"Japanese"
] | [
"deficiency of beta-galactosidase as well as of neuraminidase activity in the leukocytes and fibroblasts"
] | [
"without hepatomegaly",
"splenomegaly",
", or renal failure",
"alpha-galactosidase and alpha-L-fucosidase activities were normal"
] |
fabry:6434215 | Fabry's disease: an ultrastructural study of muscle and peripheral nerve. | [
"A 9-year-old boy, presented with disseminated angiomatous lesions on the right leg. Ultrastructural examination of muscle and peripheral nerve showed numerous lamellar inclusions characteristic of Fabry's disease in the vessel's walls and perineurial cells. In addition, there were typical lamellar inclusions in so... | [
"<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 9-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry's disease"
] | null | [
"disseminated angiomatous lesions on the right leg",
"some myelinated fibers showed segmental demyelination",
"abnormalities of nervous fibers"
] | null | null | null | null |
fabry:6430531 | Ultrastructural changes in the cornea and conjunctiva of a heterozygous woman with Fabry's disease. | [
"Heterozygous females with Fabry's disease show a typical whorled pattern in the corneal epithelium. The patient presented in this paper also had symptoms of polymyositis, necrotizing vasculitis and angiokeratomas. The diagnosis was made from the corneal changes. Electron microscopy revealed intracytoplasmic electr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Heterozygous\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry's disease",
"polymyositis"
] | [
"Heterozygous"
] | [
"typical whorled pattern in the corneal epithelium",
"necrotizing vasculitis",
"angiokeratomas",
"corneal changes"
] | null | null | null | null |
fabry:6420224 | Jejunal diverticulosis with perforation as a complication of Fabry's disease. | [
"This study presents the case of a patient who had jejunal diverticulosis with perforation and abscess formation as a complication of Fabry's disease. Light microscopy disclosed glycolipid deposition in the neurons and nerve fibers of the intestinal nerve plexuses and smooth muscle. Silver stains of the myenteric p... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study presents the case of a patient who had \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n jejunal diverticulosis\n <span style=\"font-size: 0.8em;... | [
"Fabry's disease"
] | null | [
"jejunal diverticulosis",
"perforation",
"abscess formation",
"jejunal diverticulosis",
"disorders of the smooth muscle or myenteric plexus",
"jejunal diverticulosis",
"uncoordinated smooth muscle activity",
"mucosal protrusion through the smooth muscle"
] | null | null | null | null |
fabry:6423705 | Angiokeratoma corporis diffusum in a patient with normal enzyme activities. | [
"A 34-year-old man is described with angiokeratoma corporis diffusum. This eruption was once thought to be diagnostic of Anderson-Fabry disease; however, recent studies have shown that it may also occur in the enzyme disorders fucosidosis and sialidosis. In our patient with widespread angiokeratomas, the results of... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 34-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Anderson-Fabry disease",
"enzyme disorders fucosidosis",
"sialidosis"
] | null | [
"angiokeratoma corporis diffusum",
"widespread angiokeratomas",
"angiokeratoma corporis diffusum"
] | null | null | null | [
"the results of enzyme studies were normal",
"no systemic problems or significant family history",
"without systemic features"
] |
fabry:6088246 | Pathological study of the sural nerve in Fabry's disease. | [
"A man with Fabry's disease, who died at 52, suffered from lancinating limb pains between the age of 20 and 27, and from severe arthralgia between 20 and 40. The sural nerve showed a severe loss of fibers (1,614 myelinated fibers/mm2), chiefly affecting the small myelinated fibers. Inclusions of both homogeneous an... | [
"<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",
"Fabry's disease",
"small-fiber neuropathy"
] | null | [
"died",
"lancinating limb pains",
"severe arthralgia",
"transient time course of painful manifestations",
"pain",
"pain symptoms",
"prevalent loss of small myelinated fibers",
"small sensory neurons in the dorsal root ganglia",
"pain",
"large-fiber input to the dorsal horn of the spinal cord",
"... | null | null | null | [
"absence of actual pain"
] |
fabry:6418787 | Fabry's disease (angiokeratoma corporis diffusum universale): ocular and associated findings. | [
"Fabry's disease is one of the sphingolipidoses which results from the enzyme deficiency, alpha-galactosidase-A. It is a rare, hereditary, multiorgan disorder affecting the eye, skin, kidney, gastrointestinal system, heart, reticuloendothelial system, and central nervous system. Because all affected males and 90% 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",
"sphingolipidoses",
"rare, hereditary",
"multiorgan disorder"
] | null | [
"affecting the eye, skin, kidney, gastrointestinal system, heart, reticuloendothelial system, and central nervous system",
"ocular abnormalities"
] | null | null | null | null |
fabry:6420529 | Testicular and epididymal involvement in Fabry's disease. | [
"Autopsy specimens of the testes and epididymis of a 32-year-old male with Fabry's disease were studied by light and electron microscopy. The characteristic ceramide deposits (lamellar inclusions, myeloid-bodies, zebra-bodies) were found in the Leydig cells as well as in the epithelial lining of both the ductuli ef... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Autopsy specimens of the testes and epididymis\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Fabry's disease"
] | null | [
"seminiferous tubules were severely affected",
"reduced diameter",
"involvement of the testicular structures",
"absorptive and permeable structures",
"testicular alterations"
] | null | null | null | null |
fabry:6417173 | Two dimensional echocardiographic similarity of Fabry's disease to cardiac amyloidosis: a function of ultrastructural analogy? | [
"A 53-year-old man with Fabry's disease was studied by echocardiography. Both M-mode and two dimensional echocardiographic examinations produced findings indistinguishable from those previously described as virtually diagnostic of cardiac amyloidosis. Possible causes for the \"granular sparkling\" appearance and cl... | [
"<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 53-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | null | [
"findings indistinguishable from those",
"cardiac amyloidosis",
"\"granular sparkling\" appearance"
] | null | null | null | null |
fabry:6630490 | Septic arthritis of the hip in children: poor results after late and inadequate treatment. | [
"This study reports on the late results of septic arthritis of the hip in 29 children, after an average follow-up of 12 years 7 months. The purpose of the study is to show the severe destruction caused by infection in children's hips and to reemphasize the necessity for early diagnosis and treatment. The 29 patient... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This study reports on the late results 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 septic arthritis of the hip\n <span style=\"font-size: 0.8em; fo... | [
"septic arthritis of the hip",
"hips"
] | null | [
"severe destruction caused by infection",
"associated osteomyelitis of the proximal femur",
"functional and anatomical improvement"
] | [
"Late reconstructive surgery"
] | null | null | [
"no correlation between the functional results and the anatomical situation of the joint"
] |
fabry:6416069 | Silicon nephropathy mimicking Fabry's disease. | [
"Percutaneous renal biopsy was performed in a surface coal miner with radiographic and histopathologic pulmonary changes consistent with acute silicolipoproteinosis who developed proteinuria and hematuria. Electron microscopic evaluation of the renal tissue specimen revealed a diffusely thickened glomerular basemen... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Percutaneous renal biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"nephropathy associated with silicosis"
] | null | [
"radiographic and histopathologic pulmonary changes consistent with acute silicolipoproteinosis"
] | [
"surface coal miner"
] | null | [
"proteinuria",
"hematuria"
] | [
"normal levels of plasma alpha-galactosidase A",
"normal urinary sediment glycosphingolipids",
"absence of the clinical characteristics of Fabry's disease"
] |
fabry:6322394 | Myelin bodies in urine sediment in hemizygotes with Anderson-Fabry disease. | [
"Urine sediment of a hemizygous patient with Anderson-Fabry disease contained characteristic myelin bodies on ultrastructural examination. Such examination offers an alternative, noninvasive, relatively simple means of establishing early diagnosis."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Urine sediment\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em;... | [
"Anderson-Fabry disease"
] | [
"hemizygous"
] | null | null | null | null | null |
fabry:6413695 | Involvement of dorsal root ganglia in Fabry's disease. | [
"Bouts of shooting pain along the extremities are common in the early stages of Fabry's disease. No pathological explanation has been advanced to clarify the mechanism of such pain. In the present case neuronal storage of glycolipid was confined to dorsal root ganglia neurones only. It is suggested that this may ex... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Bouts of shooting pain along the extremities\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Fabry's disease",
"Fabry's disease",
"hereditary sensory radicular neuropathy",
"familial dysautonomia",
"tabes dorsalis",
"Fabry's disease"
] | null | [
"Bouts of shooting pain along the extremities",
"shooting pain",
"similar clinical signs",
"shooting pains",
"damage to dorsal root ganglia neurones"
] | null | null | null | null |
fabry:6412469 | [Anderson-Fabry disease (angiokeratoma corporis diffusum)]. | [
"A 49-year-old man with angiokeratoma corporis diffusum is reported. Dermatological, ophthalmological or renal abnormalities have so far been found in 14 of the relatives of the patient. The typical dermal signs of the patient appeared on the distal part of the trunk at the age of 5-6 years, and swelling of the lef... | [
"<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 49-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"angiokeratoma corporis diffusum",
"Dermatological",
"ophthalmological",
"renal abnormalities",
"typical dermal signs",
"appeared on the distal part of the trunk",
"swelling of the left leg",
"bicuspidal insufficiency",
"ophthalmological symptoms",
"signs of renal damage"
] | null | null | [
"alpha-galactosidase activity deficiency of the leucocytes"
] | null |
fabry:6405613 | Early renal failure in Fabry's disease. | [
"Two young males were observed with renal failure from Fabry's disease. These two patients had progressive decrease of renal function and required hemodialysis at ages 16 and 24. Diagnosis was confirmed by low plasma galactosidase levels and by skin and kidney biopsy. Each has had a successful kidney transplant wit... | [
"<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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"renal failure",
"progressive decrease of renal function",
"good graft function",
"renal impairment",
"renal failure"
] | [
"hemodialysis",
"successful kidney transplant"
] | null | [
"low plasma galactosidase levels"
] | null |
fabry:6410291 | Kidney involvement in systemic lupus erythematosus and Fabry's disease. | [
"A young female patient with both systemic lupus erythematosus (SLE) glomerulonephritis and glomerular glycolipid storage of Fabry's disease is described. The causal relationship between the two conditions is discussed and it is suggested that accumulated immunogenic galactocerebroside may have incited an autoimmun... | [
"<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 young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"systemic lupus erythematosus (SLE) glomerulonephritis",
"autoimmune disease",
"SLE"
] | null | null | null | null | null | null |
fabry:6310828 | A case of Fabry's disease. | [
"A case of Fabry's disease in a 22-year-old male patient who had mild proteinuria and dark-red eruptions is reported. He had been treated as a case of a so-called \"chronic glomerulonephritis\" for one year. However, histopathological findings of the renal biopsy specimens showed the presence of numerous vacuolated... | [
"<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",
"chronic glomerulonephritis\"",
"Fabry's disease",
"Fabry's disease"
] | null | [
"dark-red eruptions",
"Skin lesions",
"were consistent with those of angiokeratoma corporis"
] | null | null | [
"mild proteinuria",
"levels of serum alpha-galactosidase were significantly lower than those of healthy controls"
] | null |
fabry:6294821 | [Fabry's disease. Light and electron microscopic cardiac findings 12 years after successful kidney transplantation]. | [
"Fabry's disease (angiokeratoma corporis diffusum universale) is a disorder of sphingolipid metabolism affecting predominantly male patients. Renal damage is usually the cause of death in the fourth or fifth decade. Renal transplantation represents a new approach to correction of uremia and perhaps even of the basi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 sphingolipid metabolism",
"Fabry's disease"
] | null | [
"angiokeratoma corporis diffusum universale",
"Renal damage",
"death",
"renal failure",
"complete remission of uremia and concomitant symptoms",
"progressive cardiac failure",
"anginal chest pain",
"arrythmia",
"Cardiac manifestations"
] | [
"Renal transplantation",
"received a renal allograft",
"transplantation",
"renal transplants"
] | null | [
"uremia"
] | null |
fabry:6800874 | Pathophysiologic and ultrastructural basis for intestinal symptoms in Fabry's disease. | [
"Fabry's disease is a rare, sex-linked disorder of glycolipid metabolism. We describe a patient with watery diarrhea, early satiety, and asymptomatic cholelithiasis. The jejunal aspirate demonstrated bacterial overgrowth; sigmoidoscopy showed rectal angiokeratoma corpora diffusum. The gastric emptying rate measured... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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 metabolism"
] | [
"rare, sex-linked"
] | [
"watery diarrhea",
"early satiety",
"asymptomatic cholelithiasis",
"rectal angiokeratoma corpora diffusum",
"gastric emptying rate measured with 99mTc-sulfur colloid",
"solitary radiolucent stone in a functioning gallbladder",
"diarrhea",
"early satiety",
"early satiety",
"delayed gastric emptying... | [
"metoclopramide and to tetracycline"
] | null | [
"was markedly prolonged",
"fasting gastrin was elevated at 276 pg/ml",
"markedly elevated peak at 4 h",
"increased fecal bile acid loss of 0.82 g/day"
] | [
"The bile acid pool size and lithogenic index were normal",
"normal surface epithelium",
"but not in autonomic nerve fibers or enterocytes"
] |
fabry:6806927 | Ocular pathology of Fabry's disease in a hemizygous male following renal transplantation. | [
"The ocular pathology of a hemizygous male with Fabry's disease after renal transplantation is reported. The ocular pathology in this patient was essentially identical to that which has previously been reported for both hemizygotes and heterozygotes afflicted with Fabry's disease. Glycolipid deposits and/or osmophi... | [
"<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 ocular pathology\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease",
"Fabry's disease"
] | [
"hemizygous male",
"hemizygotes",
"heterozygotes"
] | [
"ocular pathology",
"ocular pathology",
"Involvement of the retinal pigment epithelium and the corneal endothelium"
] | [
"renal transplantation"
] | null | null | [
"Retinal ganglion cells were unaffected"
] |
fabry:6802742 | Ultrastructural and biochemical liver analyses in Fabry's disease. | [
"Ultrastructural and biochemical analyses were made of liver biopsy material from a patient with longstanding Fabry's disease. Both hepatocytes as well as periportal macrophages showed lipid accumulations consisting of amorphous material as well as stacks of lamellar leaflets. Lipid inclusions in periportal macroph... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Ultrastructural and biochemical analyses\n <span style=\"font-size: 0.8em; font-weight: bold; line-height:... | [
"longstanding Fabry's disease",
"Fabry's disease"
] | null | [
"liver involvement"
] | null | null | null | [
"only minor elevated concentrations of other glycosphingolipids",
"almost normal hepatic architecture"
] |
fabry:6819715 | [Case of Fabry's disease]. | [
"A patient is described, admitted to the clinic on the occasion of proteinuria, edemas and arterial hypertension. The clinical and paraclinical data formed the picture of a renal involvement of mainly glomerular type with proteinuria to 5 gr%0, nonselective type, edemas, hypertension and data of chronic renal insuf... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient is described, admitted to the clinic on the occasion 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 proteinuria\n <span style=\"font-size: 0... | [
"renal involvement of mainly glomerular type",
"chronic renal insufficiency I degree",
"Fabry syndrome"
] | null | [
"edemas",
"arterial hypertension",
"edemas",
"hypertension",
"extrarenal manifestations",
"paresthesia of the lower limbs",
"sense of numbness to acute burning pain",
"rich psychonervous symptomatics",
"skin efflorescence"
] | null | null | [
"proteinuria",
"proteinuria to 5 gr%0, nonselective type",
"serum creatinine to 3.8%, blood urea to 112 mg%)"
] | null |
fabry:6808807 | Clinical and diagnostic considerations in Fabry's disease. | [
"Three patients with Fabry's disease with a similar clinical picture, including recurrent burning sensations in the extremities, hypohidrosis and slowly progressive renal insufficiency, have been investigated metabolically at different stages of renal impairment. One patient died after three unsuccessful renal tran... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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; b... | [
"Fabry's disease"
] | null | [
"recurrent burning sensations in the extremities",
"hypohidrosis",
"slowly progressive renal insufficiency",
"renal impairment",
"died",
"disabling pains",
"slowly progressive renal impairment"
] | [
"three unsuccessful renal transplantations in a 4-year period of intermittent haemodialysis",
"successfully transplanted",
"genetic counseling"
] | null | [
"Thermolabile alpha-galactosidase has been demonstrated in his urine"
] | [
"No therapeutic enzyme replacement"
] |
fabry:6279339 | Pseudodeficiency of alpha-galactosidase A. | [
"Apparent deficiency of alpha-galactosidase A was observed in a 51-year-old, clinically healthy male, with no clinical symptoms of Fabry disease, and without excess urinary excretion of ceramide trihexoside. The deficiency, which was similar to that found in Fabry disease patients, could be demonstrated using both ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Apparent deficiency of alpha-galactosidase A\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"Fabry disease",
"Fabry disease"
] | null | null | null | null | [
"Apparent deficiency of alpha-galactosidase A",
"deficiency",
"pseudodeficiency",
"five-fold increase in the apparent Km and a greater heat stability of the residual alpha-galactosidase activity",
"residual enzyme activity"
] | [
"no clinical symptoms of Fabry disease",
"without excess urinary excretion of ceramide trihexoside",
"not cause any clinical abnormalities"
] |
fabry:6278815 | Anderson-Fabry's disease: neuropathological and neurochemical investigation. | [
"A clinical, neuropathological and neurochemical study of a case of Anderson-Fabry's disease is described. The clinical course mainly consisted of repeated ictus with major involvement of the CNS. The neuropathological examination is dominated by severe alterations in the cerebral vessels due to glycolipid deposits... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A clinical, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n neuropathological and neurochemical study\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Anderson-Fabry's disease"
] | null | [
"repeated ictus",
"major involvement of the CNS",
"severe alterations in the cerebral vessels",
"secondary ischaemic foci scattered throughout the cortex as well as through the white matter",
"ischaemic myelin damage"
] | null | null | [
"specific alpha-galactosidase deficiency",
"decrease in N-acetyl-neuraminic acid and fucose",
"alpha-galactosidase deficiency",
"glycolipid",
"glycoprotein metabolism"
] | null |
fabry:6458935 | A prospective double-blind study of plasma exchange therapy for the acroparesthesia of Fabry's disease. | [
"During a study of the effect of plasma exchange on glycosphingolipid metabolism, a patient with Fabry's disease noted a dramatic improvement in his painful acroparesthesia. A controlled study was therefore undertaken. Observations were made of nerve conduction times, graded exercise testing, and psychometric evalu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">During a study of the effect of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasma exchange\n <span style=\"font-size: 0.8em; font-weight: bold; line-... | [
"Fabry's disease"
] | null | [
"dramatic improvement in his painful acroparesthesia",
"unpredictable exacerbation",
"spontaneous remission"
] | [
"plasma exchange",
"planned series of three plasma exchanges: one a true plasma exchange",
"plasma exchange"
] | null | [
"glycosphingolipid metabolism"
] | null |
fabry:6797229 | Fabry's disease and cornea verticillata. A report of 3 cases. | [
"Fabry's disease is a rare familial disorder of glycolipid metabolism which is caused by a deficiency of a lysosomal enzyme alpha-galactosidase. A Finnish family is described in which cornea verticillata was found in the father and 2 daughters. In all cases, there were symptoms suggesting Fabry's disease: febrile e... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"rare familial disorder of glycolipid metabolism",
"Fabry's disease",
"Fabry's disease"
] | null | [
"cornea verticillata",
"febrile episodes",
"limb pains",
"hemiplegia",
"aphasia",
"cerebral thrombosis",
"loss of vision in her right eye",
"occlusion of the central retinal artery",
"cerebrovascular condition",
"disease affecting the white matter of the brain"
] | null | [
"Finnish"
] | [
"deficiency of a lysosomal enzyme alpha-galactosidase",
"20 years of proteinuria with elevated ESR",
"alpha-galactosidase deficit in the serum and urine",
"Deficiency of this enzyme",
"abnormally high urinary tri- and dihexosyl ceramide levels"
] | [
"was not clear"
] |
fabry:6268901 | Fabry cardiomyopathy in the female confirmed by endomyocardial biopsy. | [
"A 58-year-old woman with cardiac enlargement and heart failure was a member of a family with Fabry disease. In this patient, endomyocardial biopsy permitted microscopic examination of the myocardium which revealed cellular abnormalities characteristic of Fabry cardiomyopathy. It is suggested that unfavorable lyoni... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 58-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | [
"unfavorable lyonization of the mutant-bearing X chromosome"
] | [
"cardiac enlargement",
"heart failure"
] | null | null | null | null |
fabry:6793867 | Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease. | [
"In a case of Fabry's disease, microscopic, ultrastructural, and biochemical studies of a muscle biopsy were performed, as well as microscopic, ultrastructural, and morphometric studies of a nerve biopsy. Pleomorphic lipid inclusions were observed in muscle fibers, fibroblasts, and endomysial capillaries. Moreover,... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 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-r... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"loss of large myelinated fibers",
"decrease of the average diameter of the unmyelinated fibers",
"axonal sprouting",
"pain attacks"
] | null | null | [
"the thermolabile isoenzyme A of alpha-D-galactosidase was almost completely absent"
] | null |
fabry:6794412 | Internuclear ophthalmoplegia in Fabry's disease. | [
"A 16-year-old boy with Fabry's disease had sudden onset of diplopia unassociated with any other neurologic symptoms. A right internuclear ophthalmoplegia characterized by optokinetic phenomena and ocular dysmetria was demonstrated. The diplopia resolved spontaneously in six weeks. This is the first reported case o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 16-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease",
"Fabry's disease",
"vascular occlusive disease"
] | null | [
"sudden onset of diplopia",
"right internuclear ophthalmoplegia",
"optokinetic phenomena",
"ocular dysmetria",
"diplopia",
"internuclear ophthalmoplegia",
"unilateral internuclear ophthalmoplegia"
] | null | null | null | [
"unassociated with any other neurologic symptoms"
] |
fabry:6786101 | Light- and electron-microscopic histochemistry of Fabry's disease. | [
"A histochemical study was performed on light- and electron-microscopic level in a case of Fabry's disease. The patient underwent kidney transplantation for renal failure and died of heart failure 6 months later. Patient's tissues were studied at the light- and electron-microscopic levels with various embedding and... | [
"<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 histochemical study\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Fabry's disease",
"renal failure",
"recurrence of the storage disease in the allograft"
] | null | [
"died",
"heart failure"
] | [
"kidney transplantation"
] | null | [
"peroxidase-labeled lectins",
"Ricinus communis",
"Bandeiraea simplicifolia",
"beta-D-galactose",
"blood inhibited normal alpha-galactosidase activity",
"inhibitor-"
] | null |
fabry:6782953 | Thrombotic angiokeratoma circumscriptum simulating melanoma. | [
"Three patients with solitary angiokeratomas, two of the circumscribed type (Fabry) and one of the Mibelli type, are described to show that when extensive thromboses develop in an angiokeratoma, this nodular bluish-black lesion may clinically simulate a nodular melanoma."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three 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 solitary angiokeratomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-heig... | [
"of the circumscribed type (Fabry)",
"of the Mibelli type",
"nodular melanoma"
] | null | [
"solitary angiokeratomas",
"extensive thromboses develop in an angiokeratoma",
"nodular bluish-black lesion"
] | null | null | null | null |
fabry:6258246 | [Fabry's disease without cutaneous angiokeratoma : diagnosis by electron microscope study of skin biopsy (author's transl)]. | [
"A case of Fabry's disease without typical skin lesion is reported. Electron microscope study of normally appearing skin (at clinical and even histological levels) has shown typical inclusions within cytoplasm of various dermic cells (endothelial cells and pericytes, myocytes, fibroblasts) and adipocytes. These inc... | [
"<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",
"Fabry disease",
"dyslipidoses"
] | null | null | null | null | null | [
"without typical skin lesion"
] |
fabry:6788730 | Clinical and biochemical delineation of aspartyl-glycosaminuria as observed in two members of an Italian family. | [
"Two members of a consanguineous Italian family are described with the symptoms of aspartylglycosaminuria. Both patients exhibit mental retardation, some facial dysmorphism and discrete radiological abnormalities affecting the skull and vertebrae. Peripheral blood smears revealed multivacuolated lymphocytes. Enzyme... | [
"<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 members of a consanguineous Italian\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | null | null | [
"mental retardation",
"some facial dysmorphism",
"discrete radiological abnormalities affecting the skull and vertebrae",
"Angiokeratoma corporis diffusum"
] | null | null | [
"aspartylglycosaminuria",
"absence of aspartylglucosaminidase activity",
"abnormal oligosacchariduria and aspartylglycosamine excretion"
] | null |
fabry:6164212 | Angiokeratoma corporis diffusum (Fabry disease): ultrastructural studies of the skin. | [
"A case of Fabry disease in a 34-year-old male who had typical exanthemas and familial occurrence is reported. Biochemical examinations revealed a decreased level of serum alpha-galactosidase (0.04 n mol/h/cc). On electronmicroscopy the granules specific for Fabry disease were observed in the skin lesions. By the e... | [
"<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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry disease"
] | null | [
"typical exanthemas",
"teleangiectatic eruptions"
] | null | null | [
"decreased level of serum alpha-galactosidase (0.04 n mol/h/cc)"
] | null |
fabry:6778700 | Fucosidosis: severe phenotype with survival to adult age. | [
"A male patient with fucosidosis exhibited the following characteristics: 1. Early onset and rapid progression of neurological symptoms. 2.Skin changes compatible with angiokeratoma corporis diffusum. 3. Complete or nearly complete deficiency of alpha-fucosidase. 4. Survival to adult age (20 years). The deficiency ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n male\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertica... | [
"fucosidosis"
] | null | [
"Early onset and rapid progression of neurological symptoms"
] | null | null | [
"Complete or nearly complete deficiency of alpha-fucosidase",
"deficiency of alpha-fucosidase was demonstrated in liver, tears, urine, sediment, and cultured fibroblasts",
"severe deficiency or complete absence of alpha-fucosidase"
] | [
"does not by itself preclude survival"
] |
fabry:6777135 | [Myocardial involvement in Fabry's disease (author's transl)]. | [
"Definitely impaired coronary reserve, as recorded in cases with coronary microangiopathy, was demonstrated in a 48-year-old female non-smoker with angina, positive ECG exercise tolerance test and negative coronary angiography with normal coronary circulation at rest. Myocardial biopsy from the right ventricle demo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Definitely impaired coronary reserve\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | null | [
"X-chromosomal recessive metabolic disorder"
] | [
"Definitely impaired coronary reserve",
"coronary microangiopathy",
"angina",
"positive ECG exercise tolerance test",
"prominent myocardial involvement"
] | null | null | null | [
"non-smoker",
"negative coronary angiography",
"normal coronary circulation at rest"
] |
fabry:6777052 | [Fabry's disease]. | [
"Case reports on three patients with Fabry's disease. Two of them involved necroptic examination, in one case the authors examined bioptic specimens of a 9-years old boy's skin. The material was processed by light microscopy, by electron microscopy, and by chromatography [in one case]. The two fatal cases showed ac... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Case reports on three 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; l... | [
"Fabry's disease"
] | null | [
"heart failure"
] | null | null | null | null |
fabry:6776448 | [Fabry's disease and familial lymphedema. Description of 2 cases]. | [
"Two cases of Fabry's disease (FD) with lymphedema of the lower limbs are reported. On the basis of lymphographic investigations showing lymphatic aplasia, the hypothesis of an inborn error in the development of the lymphatic system of the lower limbs--Familial Lymphedema--controlled by a gene associated with FD ge... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | [
"Fabry's disease (FD)",
"Familial Lymphedema"
] | [
"inborn error in the development of the lymphatic system of the lower limbs",
"--controlled by a gene associated with FD gene on the same chromosome"
] | [
"lymphedema of the lower limbs",
"lymphatic aplasia"
] | null | null | null | null |
fabry:6252536 | Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. | [
"Nine lysosomal enzyme activities were examined in granulocytes and lymphocytes from two unrelated patients with Chediak-Higashi syndrome (CHS) in \"accelerated phase\" and from their family members. In CHS granulocytes, there was a marked reduction of alpha-mannosidase (E.C. 3.2.1.24), alpha-galactosidase (E.C. 3.... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Nine lysosomal enzyme activities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Chediak-Higashi syndrome (CHS) in \"accelerated phase\""
] | null | null | null | null | [
"Nine lysosomal enzyme activities",
"examined in granulocytes and lymphocytes",
"granulocytes",
"marked reduction of alpha-mannosidase (E.C. 3.2.1.24), alpha-galactosidase (E.C. 3.2.1.22), and alpha-fucosidase (E.C. 3.2.1.51) activities, which were below 21, 24, and 43% of mean control values",
"beta-glucur... | [
"Neither the inhibitor in CHS granulocytes nor the activator in the heterozygous granulocytes to those enzymes could be found by mixing experiments with normal ones"
] |
fabry:6775671 | Anderson-Fabry disease. Characteristic ultrastructural features in cutaneous blood vessels in a 1-year-old boy. | [
"Electron microscopy of clinically uninvolved skin taken from a 12-month-old male child with biochemically proven angiokeratoma corporis diffusum showed characteristic lamellar lipid deposits within endothelial and perithelial cells of dermal blood vessels. Ultrastructural examination of skin may aid the early iden... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Electron microscopy of clinically uninvolved skin taken\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"angiokeratoma corporis diffusum",
"Anderson-Fabry disease"
] | null | [
"skin lesions"
] | null | null | null | null |
fabry:6772602 | [Angiokeratoma corporis diffusum in 2 brothers]. | [
"Two brothers suffering from Fabry disease, with classical dermatological and with ophthalmological symptoms, early signs of renal lesions and diminished fertility are presented. The diagnosis is verified by electronmicroscopical investigations. Good symptomic-therapeutic effect of hydantoin-derivatives was observe... | [
"<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 brothers\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | [
"Fabry disease"
] | null | [
"classical dermatological and with ophthalmological symptoms",
"early signs of renal lesions",
"diminished fertility",
"Good symptomic-therapeutic effect of hydantoin-derivatives"
] | null | null | null | null |
fabry:6249775 | [Heterozygous Fabry's disease. Case report with electron microscopic studies]. | [
"Fabry's disease is an inborn error of sphingolipid metabolism. The lysosomal hydrolase, alpha-galactosidase, is deficient. The full spectrum of symptoms (diffuse angiokeratoma, alpha-galactosidase deficiency) is only seen in males, who are always hemizygous. The heterozygous females may be asymptomatic and the enz... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\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"
] | [
"inborn error of sphingolipid metabolism",
"hemizygous",
"heterozygous"
] | [
"diffuse angiokeratoma"
] | [
"genetic counseling"
] | null | [
"lysosomal hydrolase, alpha-galactosidase, is deficient",
"alpha-galactosidase deficiency"
] | [
"asymptomatic",
"enzyme activity can be normal"
] |
fabry:6246846 | Cultured skin fibroblasts in lipidoses. Enzymatic, histochemical, and ultrastructural relationship in Fabry's Tay-Sachs, and Sandhoff's diseases. | [
"Enzymatic, histochemical, and ultrastructural studies were performed on cultured skin fibroblasts from patients with Fabry's disease, Tay-Sach's disease, and Sandhoff's disease and from their families (carriers). alpha-Galactosidase activity was deficient in the proband with Fabry's disease (lower in the homozygot... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Enzymatic, histochemical, and ultrastructural studies\n <span style=\"font-size: 0.8em; font-weight: bold;... | [
"Fabry's disease",
"Tay-Sach's disease",
"Sandhoff's disease",
"Fabry's disease",
"Tay-Sachs disease",
"Sandhoff's disease",
"Fabry's disease"
] | [
"lower in the homozygotes than in the heterozygote)"
] | null | null | null | [
"alpha-Galactosidase activity was deficient",
"Levels of hexosaminidase A",
"and hexosaminidase A and B in",
"were deficient and were lower in her mother",
"low level of enzymatic activity"
] | null |
fabry:6245668 | [Fabry's disease with malocclusion and acromegalic-appearance: clinical and electromicroscopic studies (author's transl)]. | [
"The present case is a 24-years-old man who complained painful attack with numbness in both bilateral shoulder regions and distal extremities. This pain was increased by the stimulations of sunlight and heat. On physical examinations, he had an acromegalic-like-appearance, thick mustache and beard. Malocclusion of ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The present case is 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 24-years-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bo... | [
"Fabry's disease"
] | null | [
"painful attack with numbness in both bilateral shoulder regions and distal extremities",
"pain",
"acromegalic-like-appearance",
"thick mustache and beard",
"Malocclusion of the teeth which showed the broad space",
"Hypesthesia in bilateral distal extremities"
] | null | null | [
"alpha-galactosidase deficiency analysed in leukocytes"
] | [
"skin lesion was not found out",
"no other abnormal neurological findings were observed"
] |
fabry:6767848 | Angiokeratoma corporis diffusum with features of a mucopolysaccharidosis. | [
"Two cases of angiokeratoma corporis diffusum with mental retardation and some features of a mucopolysaccharidosis have been investigated biochemically, histopathologically, and by electron microscopy. It is submitted, on this evidence, that they are examples of a hitherto undescribed form of lysosomal enzyme defic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">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 angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"lysosomal enzyme deficiency disease"
] | null | [
"angiokeratoma corporis diffusum",
"mental retardation",
"some features of a mucopolysaccharidosis"
] | null | null | null | null |
fabry:6767013 | Granulomatous gingivitis in Anderson-Fabry disease. | [
"The patient is suffering from Anderson-Fabry disease. This was documented by family history, clinical findings, histochemical and electronmicroscopic demonstration of ceramide in the blood vessels, and enzyme studies. The patient, at age 17, developed a unique gingival enlargement, gingivitis granulomatosa, a cobb... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The patient is suffering from \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"Anderson-Fabry disease",
"glossitis granulomatosa",
"cheilitis granulomatosa",
"Melkersson-Rosenthal syndrome",
"Anderson-Fabry disease"
] | null | [
"unique gingival enlargement",
"gingivitis granulomatosa",
"cobbled tongue",
"lip enlargement",
"generalized granulomatous lymphadenopathy",
"minor infection",
"idiosyncratic reaction to Dilantin",
"of the granulomatous response",
"affected the gingiva",
"gingival enlargement"
] | [
"only taken the drug for a brief period",
"local therapy in the form of oral hygiene instruction",
"dental prophylaxis",
"gingivectomy",
"regular maintenance therapy"
] | null | null | [
"did not have sarcoidosis or other specific granulomatous diseases",
"These were ruled out",
"skin examination, chest films, histology, and skin sensitivity testing",
"Dilantin associated gingival enlargement"
] |
fabry:6766499 | Basilar artery aneurysm and Anderson-Fabry disease. | [
"A case of basilar artery aneurysm is described. The patient had a family history of similar aneurysms and also of a rare spingolipidosis, Anderson-Fabry disease."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A case of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n basilar artery aneurysm\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bor... | null | null | [
"basilar artery aneurysm"
] | null | null | null | null |
fabry:6766061 | Clinicopathologic, enzymatic, and genetic features in a case of Fabry's disease. | [
"We report renal lesions and functional alterations in a 32-year-old man with Fabry's disease (ceramidetrihexosidase deficiency). By light microscopy of a renal biopsy specimen, distinctive \"foamy\" cytoplasmic alterations were observed in renal glomerular, tubular, vascular, and interstitial cells. Histochemical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry's disease",
")",
"Fabry's disease"
] | null | [
"renal lesions",
"functional alterations",
"renal dysfunction"
] | null | null | [
"ceramidetrihexosidase deficiency",
"glomerular filtration rate of 86.1 mL/min/1.73 sq m",
"effective renal plasma flow of 415 mL/min/1.73 sq m",
"tubular reabsorption of glucose of 356 mg/min/100 glomerular filtration rate",
"maximal urinary concentrating and diluting ability of 568 and 46 mOsm/kg, respect... | null |
fabry:6446856 | Genetic counseling for adoptees at risk for specific inherited disorders. | [
"We present 5 cases in which family history showed that a child given up for adoption some years earlier was at 50% risk for inheritance of Huntington disease, myotonic dystrophy, myotonic dystrophy, Fabry disease, von Willebrand disease, and Waardenburg syndrome, respectively. In all cases, the biological mothers ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present 5 cases in which \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n family history showed that a child given up for adoption some years earlier was a... | [
"myotonic dystrophy",
"myotonic dystrophy",
"Fabry disease",
"von Willebrand disease",
"Waardenburg syndrome"
] | null | null | [
"the genetic counseling provided for them and their children be shared with the adoptive family",
"seek out the adoptee",
"adoptive family",
"genetic counseling",
"by adoption"
] | null | null | null |
fabry:6259247 | [Fabry's disease in ophthalmology (author's transl)]. | [
"The authors report a new case of Fabry's disease and emphasize the easiness of diagnosis on simple slit lamp examination of the affected males and conductor females. This disease is transmitted as X linked so that both heterozygotes and hemizygotes show a corneal storage known as cornea verticillata. The clinical ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors report a new 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... | [
"Fabry's disease"
] | [
"transmitted as X linked",
"heterozygotes",
"hemizygotes"
] | [
"corneal storage",
"cornea verticillata"
] | null | null | null | null |
fabry:6256019 | Enzyme therapy XVII: metabolic and immunologic evaluation of alpha- galactosidase A replacement in Fabry disease. | [
"A pilot trial of enzyme replacement using splenic and plasma forms of alpha-galactosidase A was undertaken in 2 brothers with Fabry disease, an X-linked glycosphingolipid storage disease. Partially purified preparations of alpha-galactosidase A from human spleen and plasma Cohn fraction IV-1 were prepared aseptica... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A pilot trial of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement using splenic and plasma forms of alpha-galactosidase A\n <span style=... | [
"Fabry disease",
"glycosphingolipid storage disease"
] | [
"X-linked"
] | null | [
"enzyme replacement using splenic and plasma forms of alpha-galactosidase A",
"IV administration of 6 unentrapped doses (2,000 U/kg) of each enzyme form",
"117-day period",
"Repeated injections",
"the plasma form",
"dose of the splenic form",
"injection of the plasma form decreased the circulating subst... | null | [
"disappearance of enzymatic activity from plasma",
"levels of circulating substrate",
"circulating half-life of the splenic form",
"concentration of the accumulated circulating substrate globotriaosylceramide, decreased maximally (approximately 50% of initial values) in 15 min and returned to preinfusion leve... | [
"No immune response was detected by skin and immunodiffusion tests or by alterations in the maximal activity or clearance kinetics for either enzyme",
"lack of an immune response to repeated administrations of these homologous, unentrapped enzymes"
] |
fabry:6243209 | Myeloid bodies in patients without clinical Fabry's disease. | [
"Electron microscopy of renal biopsy specimens obtained from three patients revealed typical laminated electron-dense bodies (myeloid bodies) previously believed to be diagnostic of Fabry's disease. None of the patients manifested clinical features characteristic of this disorder, and in one patient leukocyte alpha... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Electron microscopy of renal biopsy specimens\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | null | [
"heterozygous or homozygous expression of Fabry's disease"
] | null | null | null | null | [
"None",
"manifested clinical features characteristic of this disorder",
"leukocyte alpha-galactosidase levels were normal"
] |
fabry:228550 | Fabry's disease in a black kindred. | [
"In a 16-member black kindred with Fabry's disease, four hemizygous males had plasma alpha-galactosidase levels less than 6% and seven heterozygous females had plasma alpha-galactosidase levels between 10% and 50% of normal. A 16-year-old index male had hypertension with left ventricular hypertrophy, abnormal renal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 16-member black kindred with Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | null | [
"hemizygous males",
"heterozygous",
"inheritance pattern of the Fabry gene is X-linked recessive"
] | [
"hypertension",
"left ventricular hypertrophy",
"abnormal renal function",
"tortuous retinal veins",
"Scrotal angiectasia",
"left ventricular hypertrophy",
"retinal vein tortuosity",
"frequent headaches",
"retinal vessel changes",
"bundle-branch blocks on ECGs"
] | null | null | [
"plasma alpha-galactosidase levels less than 6%",
"plasma alpha-galactosidase levels between 10% and 50% of normal",
"proteinuria"
] | [
"normal renal function",
"no deuteranomalopia"
] |
fabry:228284 | Enzyme therapy in Fabry disease: differential in vivo plasma clearance and metabolic effectiveness of plasma and splenic alpha-galactosidase A isozymes. | [
"A pilot trial of enzyme replacement with splenic and plasma alpha-galactosidase A (alpha-D-galactosidase; alpha-D-galactoside galactohydrolase, EC 3.2.1.22) isozymes was undertaken in two brothers with Fabry disease, an X-linked glycosphingolipid storage disease. Six unentrapped doses (2000 units/kg) of each isozy... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A pilot trial of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n enzyme replacement with splenic and plasma alpha-galactosidase A (alpha-D-galactosidase; alp... | [
"Fabry disease",
"glycosphingolipid storage disease"
] | [
"X-linked"
] | null | [
"enzyme replacement with splenic and plasma alpha-galactosidase A (alpha-D-galactosidase; alpha-D-galactoside galactohydrolase, EC 3.2.1.22) isozymes",
"Six unentrapped doses (2000 units/kg) of each isozyme were administered intravenously",
"117-day period",
"dose of the splenic isozyme",
"injection of the ... | null | [
"circulating half-life of the splenic isozyme",
"for the plasma isozyme",
"concentration of the accumulated circulating substrate, trihexosylceramide (globotriaosylceramide), decreased maximally (approximately 50% of initial values) in 15 min and returned to preinfusion levels by 2-3 hr",
"the concentrations ... | [
"No immune response was detected by skin and immunodiffusion tests or by alterations in the maximal activity or clearance kinetics for either isozyme after successive administrations"
] |
fabry:221859 | Fabry disease: cellular expression of enzyme deficiency in nerve xenografts. | [
"Human sural nerve fascicles from a patient with Fabry disease were transplanted into nude-mouse sciatic nerves to determine whether transplanted perineurial cells and smooth-muscle cells of an epineurial artery would express the genetic abnormality of the disease. Four months after grafting, both perineurial cells... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Human sural nerve fascicles\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Fabry disease"
] | [
"genetic abnormality"
] | null | [
"transplanted into nude-mouse sciatic nerves"
] | null | null | null |
fabry:119441 | Fabry's disease. Primary diagnosis by electron microscopy. | [
"Fabry's disease is a lipid storage disease found in children and adults. The lipid is stored as a myelin-figure-like whorl of membranes in endothelial and smooth muscle cells, myocardium, fibroblasts, and epithelial cells of the glomerulus. The lipid deposits are identifiable by light microscopy, but are much easi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lipid storage disease"
] | null | [
"vascular insufficiency",
"narrowing and thrombosis of arteries and arterioles",
"vascular insufficiency",
"peripheral neuritis",
"myocardial infarction",
"peripheral infarction",
"cerebral infarction",
"Corneal clouding due to lipid deposits",
"Renal involvement",
"renal failure"
] | null | null | null | null |
fabry:112574 | [Fabry's disease: two patients improved by fetal liver cells (author's transl)]. | [
"The first patient reported was a 33 years old male with clinical manifestations of Fabry's disease. The diagnosis was confirmed by ophthalmologic, histological and enzymatic studies. Because of inefficacity of treatment with plasma transfusions and of symptomatic therapies, a transplant of cells with normal enzyma... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The first patient reported was a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 33 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-he... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"clinical manifestations",
"improvement of extra-renal manifestations of the disease",
"objective and subjective clinical symptoms were significantly improved",
"cutaneous lesions appeared slightly decreased",
"pains disappeared",
"histological lesions",
"except at the cold season"
] | [
"transplant of cells with normal enzymatic activities",
"transplant of fetal liver cells",
"kidney transplantation",
"fetal liver transplant",
"received a fetal liver transplant",
"transplant",
"kidney transplant",
"cells, rather than steroids or azathioprine"
] | null | [
"dosages of circulating alphafoetoprotein",
"enzyme deficiency",
"enzyme activity exerted in situ",
"genetic enzyme deficiency"
] | [
"inefficacity of treatment with plasma transfusions and of symptomatic therapies",
"without renal failure",
"a renal transplant was not justified",
"sweating appeared became normal",
"failure of one plasma transfusion",
"normal sweating",
"relatively few pains"
] |
fabry:108031 | [Lipid thesaurismosis rheumatism. Arthropathies in alpha galactosidase A deficiency (Fabry's disease). Ultrastructural study of the synovial membrane demonstrating microcrystals in the mitochondria of synoviocytes]. | [
"Articular manifestations may be the onset of genetic alpha galactosidase deficiency (Fabry's disease). Ultrastructural study shows typical osmiophilic lamellar inclusions of trihexosylceramides in synoviocytes, capillaries and adipocytes. Furthermore microcrystals identical to those seen in Gaucher's disease and t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Articular manifestations\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"genetic alpha galactosidase deficiency",
"Fabry's disease)",
"arthropathies",
"gout",
"chondrocalcinosis",
"crystallopathic arthropathies"
] | null | [
"Articular manifestations"
] | null | null | null | null |
fabry:95047 | Foetal liver transplant in Fabry's disease. | [
"Two patients, 33 and 26 years old, presented with Fabry's disease and minimal renal involvement. They were treated with a transplant of foetal liver cells exhibiting normal enzymatic activities, after plasma transfusions and symptomatic therapies had proved ineffective. In the first patient, objective and subjecti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two patients, \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 33\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Fabry's disease"
] | null | [
"minimal renal involvement",
"objective and subjective clinical symptoms were significantly improved",
"sweating appeared",
"cutaneous lesions seemed slightly decreased",
"pains disappeared",
"pains were also seemingly decreased"
] | [
"transplant of foetal liver cells",
"kidney transplant",
"steroids or azathioprine"
] | null | null | [
"normal enzymatic activities",
"after plasma transfusions and symptomatic therapies had proved ineffective"
] |
fabry:37087 | Fabry's disease with familial lymphedema of the lower limbs. Case report and family study. | [
"The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the pat... | [
"<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 49-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radi... | [
"Fabry's disease (FD)",
"FD"
] | [
"inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome"
] | [
"severe neurological involvement",
"conspicuous lymphedema of the lower limbs",
"lymphedema of the lower limbs",
"familial lymphedema of the lower limbs"
] | null | null | null | null |
fabry:101930 | Histopathology and electron and immunofluorescence microscopy of gingivitis granulomatosa associated with glossitis and cheilitis in a case of Anderson-Fabry disease. | [
"A 17-year-old white boy with signs, symptoms, and family history of angiokeratoma corporis diffusum universale, Anderson-Fabry disease (AFD), developed recurrent and then persistent swelling of both lips, erythematous hyperplastic gingivae, and a pebbled tongue. Positive blood findings were raised serum IgE, decre... | [
"<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 17-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Anderson-Fabry disease (AFD)",
"Melkersson-Rosenthal syndrome"
] | null | [
"recurrent and then persistent swelling of both lips",
"erythematous hyperplastic gingivae",
"pebbled tongue",
"oral findings",
"damage to the microvasculature"
] | null | [
"white"
] | [
"raised serum IgE",
"decreased T-cell level",
"increased B-cell level",
"immunofluorescence demonstrated immune globulins of several classes",
"altered immune reactivity"
] | [
"No glycolipid was found in the macrophages or giant cells of the granulomas",
"sarcoid reactions"
] |
fabry:97403 | Eye findings in the diagnosis of Fabry's disease. Patients with renal failure. | [
"Two patients underwent renal transplantation for what was thought to be glomerulonephritis and chronic pyelonephritis. The diagnosis of Fabry's disease was made as an incidental finding during an ophthalmologic consultation for evaluation of blurred vision. These two cases illustrate the usefulness of an eye exami... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two patients underwent \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n renal transplantation\n <span style=\"font-size: 0.8em; font-weight: bold; line-hei... | [
"glomerulonephritis",
"chronic pyelonephritis",
"Fabry's disease",
"Fabry's disease"
] | null | [
"blurred vision",
"multisystem complaints"
] | [
"renal transplantation"
] | null | null | null |
fabry:99064 | Accelerated atrioventricular conduction in Fabry's disease: a case report. | [
"Three unrelated men with Fabry's disease (angiokeratoma corporis diffusum universale) and accelerated atrioventricular conduction are described. AQn His bundle electrogram in one patient who reported episodes of tachycardia demonstrated a prolonged deflection preceding the ventricular complex. This deflection is t... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Three unrelated \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.... | [
"Fabry's disease",
"angiokeratoma corporis diffusum universale)",
"Fabry's disease"
] | null | [
"accelerated atrioventricular conduction",
"episodes of tachycardia",
"prolonged deflection preceding the ventricular complex",
"abnormal His bundle potential",
"PR interval decreased from 0.18 to 0.11 second during 10 years",
"it decreased from 0.12 to 0.10 seconds during 13 years",
"Accelerated atriov... | null | null | null | null |
fabry:417704 | Involvement of peripheral nerve and muscle in Fabry's disease. Histologic, ultrastructural, and morphometric studies. | [
"Light microscopic and ultrastructural studies of biopsy specimens from the sural nerve and the gastrocnemius muscle in a patient with Fabry's disease showed accumulation of lipids in endothelial and perithelial cells of the vessel walls. In addition, the peripheral nerve exhibited deposition of lipids in the perin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Light microscopic and ultrastructural studies of biopsy specimens from the sural nerve and the gastrocnemius ... | [
"Fabry's disease",
"peripheral neuropathy"
] | null | [
"loss of large unmyelinated and thin myelinated nerve fibers",
"Excruciating pain",
"loss of sweating",
"loss of these fiber categories"
] | null | null | null | null |
fabry:207248 | Central retinal artery occlusion complicating Fabry's disease. | [
"A 16-year-old boy had a central retinal artery occlusion and was subsequently diagnosed as a hemizygote with Fabry's disease. The typical ocular manifestations in males with this inborn error of glycosphingolipid metabolism include whorl-like corneal epithelial infiltrates, retinal and conjunctival vessel tortuosi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 16-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | [
"inborn error of glycosphingolipid metabolism"
] | [
"central retinal artery occlusion",
"ocular manifestations",
"whorl-like corneal epithelial infiltrates",
"retinal and conjunctival vessel tortuosity",
"lenticular changes",
"retinal artery occlusion",
"ocular complication"
] | null | null | null | null |
fabry:205381 | Detection of Fabry's disease heterozygotes by hair root analysis. | [
"The alpha-galactosidase/beta-hexosaminidase ratio was measured for individual hair roots as a method for heterozygote detection in Fabry's disease. Hair root analysis in control individuals revealed no striking sex difference in alpha-galactosidase/beta-hexosaminidase ratio when five males and five females were co... | [
"<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 alpha-galactosidase/beta-hexosaminidase ratio\n <span style=\"font-size: 0.8em; font-weight: bold; lin... | [
"Fabry's disease",
"Lesch-Nyhan syndrome"
] | [
"hemizygous males",
"heterozygotes",
"hemizygotes",
"X-linked",
"new mutation"
] | [
"clinical evidence of disease"
] | null | null | [
"alpha-galactosidase/beta-hexosaminidase ratio",
"alpha-galactosidase/beta-hexosaminidase ratio",
"both enzyme activities in nmol of product per min per microliter of hair extract",
"0.8 to 9",
"less than 0.1 to 0.4"
] | [
"no striking sex difference",
"without clinical or biochemical evidence",
"of Fabry's disease"
] |
fabry:211468 | Corneal ultrastructural changes in Fabry's disease. | [
"A case of Fabry's disease is reported. The findings of the corneal alterations with the light microscope as well as with the electron microscope are described. The diffuse corneal haziness seems to be due to small intracellular osmiophilic inclusions of the epithelium. There seems also to be a relation between the... | [
"<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"
] | null | [
"corneal alterations",
"diffuse corneal haziness",
"punctiform grey opacities",
"whorl-like opacities"
] | null | null | null | null |
fabry:96708 | [Vascular lesions of Fabry's disease. Optical, histochemical and ultrastructural studies]. | [
"On the basis of a new case of Fabry's disease and the various cases published in the literature, the authors analyse the vascular lesions of this angiodysplasia related to an error in lipid metabolism. They emphasise the involvement of lymph vessels (in particular those of the small bowel), and the ultrastructural... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">On the basis of a new 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-he... | [
"Fabry's disease",
"angiodysplasia"
] | null | [
"vascular lesions",
"involvement of lymph vessels (in particular those of the small bowel)"
] | null | null | [
"error in lipid metabolism"
] | null |
fabry:412484 | [Fabry's disease. Carbamazepine therapy in acrodyniform syndrome]. | [
"A 19 year old male affected with Fabry's disease suffered from severe nervous manifestations. Despite very peculiar pains of the extremities, the diagnosis has been missed for a long time and was painted out at this age because of sharp reconstitution of the family history. Fabry's disease was confirmed by discove... | [
"<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 19 year old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | null | [
"severe nervous manifestations",
"very peculiar pains of the extremities",
"typical corneal lesion",
"painfull symptoms"
] | [
"Carbamazepin",
"normal social and school living",
"symptomatic and therapeutic action of Carbamazepin or Diphenytoin"
] | null | [
"low leucocyte (W.B.C.) alpha-galactosidase activity"
] | [
"Instead of degrading narcotic therapy"
] |
fabry:199133 | Clinical, histopathological, and biochemical findings in Fabry's disease. A case report and family study. | [
"An extensive enzymatic and morphological study was performed in a 38-year-old patient with Fabry's disease (FD). The quantitative evaluation of the enzyme alpha-galactosidase was shown to be important in identifying the genetic distribution of FD in the family tree of the patient under study. An enzymatic activity... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n extensive enzymatic and morphological study\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"Fabry's disease (FD)",
"FD"
] | [
"heterozygous"
] | null | null | null | [
"An enzymatic activity less than 0.5 nanomole/hr/10(6) cells and ranging from 2.2 to 1.1 nanomoles/hr/10(6) cells",
"alpha-galactosidase activity in the patient's leukocytes"
] | null |
fabry:410963 | Cardiac manifestations of Fabry's disease. Report of a case with pulmonary regurgitation diagnosed on the basis of endomyocardial biopsy findings. | [
"A case of Fabry's disease with pulmonary regurgitation is reported, and the cause of valvular involvement, the electrophysiological mechanism of the short PR interval, and the usefulness of the endomyocardial biopsy method in an attempt to establish the diagnosis in Fabry's disease have been discussed."
] | [
"<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",
"Fabry's disease"
] | null | [
"pulmonary regurgitation",
"valvular involvement",
"the short PR interval"
] | null | null | null | null |
fabry:197770 | Ultrastructure of muscle and sensory nerve in Fabry's disease. | [
"A study of a muscle biopsy has provided evidence of storage involvement of the skeletal muscle fibres in Fabry's disease. In the endothelial cells of the capillaries, the inclusions were more abundant and pleomorphic. Muscle satellite cells were spared. In the sensory nerve biopsy, the perineurial and endothelial ... | [
"<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 study of a muscle biopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry's disease"
] | null | [
"slight reduction of the number of the small myelinated fibres and of the unmyelinated fibres",
"pain attacks"
] | null | null | null | [
"Muscle satellite cells were spared"
] |
fabry:23508 | Enzymic detection of metachromatic leukodystrophy patients and heterozygotes. | [
"Two unrelated families with metachromatic leukodystrophy have been examined for the leukocyte enzyme arylsufatase A. The enzyme activities clearly reflect an autosomal recessive mode of inherence. All four parents showed heterozygote enzyme levels 40-60 percent of the control range while the two affected children ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two unrelated families 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 metachromatic leukodystrophy\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"metachromatic leukodystrophy",
"neurological disorders",
"lysosomal storage diseases",
"Tay-Sachs",
"Fabry disease"
] | [
"autosomal recessive mode of inherence"
] | [
"metachromatic leukodystrophy"
] | null | null | [
"enzyme activities",
"less than 20 percent normal activity",
"sulfatase activity in tears"
] | null |
fabry:407951 | Pseudo-clinical Fabry's disease without alpha galactosidase deficiency. | [
"The authors describe two cases of clinical Fabry's disease. The first patient presents a deficiency of alpha galactosidase and a urinary excretion of ceramide trihexosides and dihexosides ; the second patient had a normal alpha galactosidase and normal excretion of urinary lipids. In this latter case the Km and th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The authors describe two cases of clinical \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: ... | [
"Fabry's disease"
] | null | null | null | null | [
"deficiency of alpha galactosidase",
"urinary excretion of ceramide trihexosides and dihexosides",
"Km and the activity of the enzyme measured at different pH were similar to those of normal enzyme",
"lysosomal enzymes, beta galactosidase, beta glucosidase, hexosaminidases A and B, alpha fucosidase",
"aryls... | [
"normal alpha galactosidase",
"normal excretion of urinary lipids",
"all have normal activities",
"no urinary excretion of glycolipids or mucopolysaccharides"
] |
fabry:402253 | Fucosidosis. | [
"Disseminated angiokeratomas can be seen in patients with an inherited deficiency of alpha-l-fucosidase as well as in patients with classic Fabry's disease. Patients with deficiency of this lysosomal enzyme, or fucosidosis, have spasticity, mental retardation, and retardation of growth in addition to angiokeratomas... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Disseminated angiokeratomas\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Fabry's disease",
"fucosidosis"
] | [
"inherited deficiency of alpha-l-fucosidase"
] | [
"Disseminated angiokeratomas",
"spasticity",
"mental retardation",
"retardation of growth",
"angiokeratomas"
] | null | null | [
"deficiency of this lysosomal enzyme"
] | null |
fabry:828204 | Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia. | [
"A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clin... | [
"<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 family\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; verti... | [
"Anderson--Fabry's disease"
] | [
"abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY)"
] | null | null | [
"north-east of England"
] | [
"Alpha-galactosidase activity in plasma and white cells was significantly reduced"
] | null |
fabry:141257 | [Iconographic aspects of ocular involvement in Fabry's disease]. | [
"An illustration of the ocular involvement seen in Fabry's disease: cornea verticilata, vascular conjunctival lesions, dyschromatopsia was observed in two brothers who were carriers of the condition."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">An illustration of the \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n ocular involvement\n <span style=\"font-size: 0.8em; font-weight: bold; line-height... | [
"Fabry's disease"
] | null | [
"ocular involvement",
"cornea verticilata",
"vascular conjunctival lesions",
"dyschromatopsia"
] | null | null | null | null |
fabry:826210 | Hearing loss in patients with dialysis and renal transplants. | [
"Hearing loss in renal dialysis and renal transplant patients occurs quite frequently. An assessment of the likely etiological factors is nearly impossible in a retrospective analysis of any one patient because many factors exist simultaneously. In a prospective study of a large series of patients an identification... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hearing loss\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; v... | null | null | [
"Hearing loss",
"hearing loss",
"hearing loss",
"potentiation"
] | [
"renal dialysis",
"renal transplant"
] | null | null | [
"inadvisable to attribute total"
] |
fabry:824066 | Cardiac valvular anomalies in Fabry disease. Clinical, morphologic, and biochemical studies. | [
"The cardiovascular abnormalities were investigated in two unrelated hemizygous males with Fabry disease who had clinical mitral insufficiency. Postmortem examination of their hearts revelaed anatomic, ultrastructural and biochemical abnormalities resulting from defective activity of the lysosomal enzyme, alpha-gal... | [
"<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 cardiovascular abnormalities\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease",
"Fabry disease"
] | null | [
"cardiovascular abnormalities",
"clinical mitral insufficiency",
"anatomic, ultrastructural and biochemical abnormalities",
"multiple cardiovascular manfiestation"
] | null | null | null | null |
fabry:183606 | Angiokeratoma corporis diffusum (Fabry disease). A lysosomal disease. | [
"Angiokeratoma corporis diffusum (Fabry disease) is an X-linked recessive disease. We had an opportunity to examine a heterozygous female patient with angiokeratoma and cornea verticillata. The patient's serum alpha-galactosidase activity was reported to be about 50% of normal. Skin lesion biopsy specimens were sta... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma corporis diffusum\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"Fabry disease)"
] | [
"X-linked recessive disease",
"heterozygous"
] | [
"Angiokeratoma corporis diffusum",
"angiokeratoma",
"cornea verticillata"
] | null | null | [
"serum alpha-galactosidase activity was reported to be about 50% of normal"
] | null |
fabry:819638 | Oral lesions in fucosidosis. | [
"The oral lesions in two previously reported cases of fucosidosis are discussed. The patients have coarse facies, severe mental retardation, spondyloepiphyseal dysplasia, deficiency of a-L-fucosidase, and red punctate lesions of the skin and oral mucosa. Gingival biopsy specimens showed that these lesions were iden... | [
"<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 oral lesions\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"fucosidosis",
"spondyloepiphyseal dysplasia"
] | null | [
"oral lesions",
"coarse facies",
"severe mental retardation",
"red punctate lesions of the skin and oral mucosa",
"lesions were identical to the angiokeratoma corporis diffusum",
"slowly progressing psychomotor retardation",
"recurrent upper respiratory tract infections"
] | null | null | [
"deficiency of a-L-fucosidase"
] | null |
fabry:814528 | Fucosidosis type 2. | [
"Two siblings, 9 and 4 1/2 years old, had alpha-L-fucosidase deficiency, angiokeratoma, progressive psychomotor retardation, neurologic signs, coarse facila features, and dysostosis multiplex. It appears that genetic heterogeneity is present in fucosidosis; there are at least two types. In type 1, patients have no ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Two siblings, 9 and 4 1/2 years old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"dysostosis multiplex",
"fucosidosis",
"type 2"
] | [
"genetic heterogeneity"
] | [
"angiokeratoma",
"progressive psychomotor retardation",
"neurologic signs",
"coarse facila features",
"rapid psychomotor regression",
"severe and rapidly progressing neurologic signs",
"fatal outcome",
"angiokeratoma",
"milder psychomotor retardation",
"and neurologic signs",
"longer survival",
... | null | null | [
"alpha-L-fucosidase deficiency",
"elevated sodium and chloride excretion in the sweat",
"severely increased expressions of Lea and Leb"
] | [
"no vascular lesions",
"normal salinity in the sweat"
] |
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