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:22033111 | [Stroke and cornea verticillata revealing Fabry's disease in a female]. | [
"Fabry's disease is a X-linked lysosomal storage disorder caused by an alpha-galactosidase A deficiency responsible for the accumulation of glycosphingolipids. Males are more severely and frequently affected than females. We report the case of a female who presented a stroke revealing Fabry's disease.",
"An 53-ye... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disorder",
"Fabry's disease",
"hypertrophic concentric cardiomyopathy",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked",
"c.150_151del mutation responsible for a loss of function",
"X-linked disease"
] | [
"stroke",
"cardiovascular risk factors",
"two previous transient ischemic attacks",
"brutal right hemiparisia",
"multiple white matter lesions in the cerebral hemispheres with multiple lacunar infarcts and ectatic vessels",
"cornea verticillata",
"young onset stroke",
"involvement of the nervous and c... | [
"enzyme replacement therapy by recombinant enzyme",
"cardiovascular benefit"
] | null | [
"alpha-galactosidase A deficiency"
] | [
"Despite the presence of cardiovascular risk factors"
] |
fabry:22003877 | Fixed prosthodontic rehabilitation in a wear patient with Fabry's disease. | [
"Fabry's disease is an uncommon X-linked metabolic disorder that leads to abnormal accumulation of glycosphingolipids in the body resulting in a variety of systemic disorders. Few reports have addressed dental findings and management of these patients. This clinical report describes the fixed prosthodontic rehabili... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"metabolic disorder",
"Fabry's disease",
"Fabry's disease"
] | [
"uncommon X-linked"
] | [
"systemic disorders",
"generalized severe wear of the dentition",
"systemic morbidities",
"intraoral angiokeratomas",
"telangiactasias",
"anterior diastemata",
"bimaxillary prognathism",
"oral findings",
"oral health and integrity of the restorations remained stable"
] | [
"fixed prosthodontic rehabilitation",
"interdisciplinary team of dental specialists",
"prosthodontic treatment included restorations on all teeth, except mandibular anterior teeth",
"restored with a partial group function scheme of occlusion",
"prosthodontic management",
"fixed prosthodontic treatment",
... | null | null | null |
fabry:22008442 | Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V). | [
"Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"idiopathic hypertrophic cardiomyopathy"
] | [
"X-linked",
"mutations of the α-galactosidase A gene (GLA)",
"GLA mutations",
"new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution",
"GLA gene mutations",
"novel missense mutation in the GLA gene"
] | [
"left ventricular hypertrophy",
"left ventricular hypertrophy",
"localized thinning in the basal posterior wall",
"late gadolinium enhancement (LGE) in the near-circumferential wall",
"LGE notably"
] | null | null | [
"decreased α-galactosidase A activity",
"increased NT-pro BNP"
] | [
"without organic stenosis of the coronary arteries"
] |
fabry:21967192 | Wilhelm Fabry's 1614 report on a giant condyloma of the penis. | [
"For many years it has been the work of Buschke and Löwenstein that has justified calling the exophytic, locally destructive tumour of the anogenital mucosal surface 'giant condyloma of Buschke and Löwenstein' or GCBL. In order to investigate the early history of this rare disease we examined the writings of the ba... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">For many years it has been the work of Buschke and Löwenstein that has justified calling 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 exophytic, local... | [
"giant condyloma of Buschke and Löwenstein",
"GCBL",
"dermatological disorders",
"monstrous penile tumour'",
"giant condyloma",
"neoplasias",
"giant condyloma of Fabry-Buschke-Löwenstein",
"GCFBL"
] | null | [
"exophytic, locally destructive tumour of the anogenital mucosal surface",
"tumour of the penis",
"gradual formation of a warty lesion",
"considerable size",
"invasive growth",
"urethral fistulization",
"survival period of 10 years"
] | [
"amputation"
] | null | null | [
"absence of metastases",
"common' condylomata acuminata",
"exclusion of a 'true' carcinoma"
] |
fabry:23926402 | Fabry disease superimposed on overt autoimmune hypothyroidism. | [
"Fabry disease (FD) is an X-linked recessive disorder caused by lysosomal α-galactosidase A deficiency. FD is characterized by the systemic accumulation of globotriaosylceramide with involvement of the heart, kidney, brain and gastrointestinal system. Recently, nonautoimmune thyroid dysfunction was recognized as an... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"FD",
"FD",
"overt autoimmune hypothyroidism",
"primary hypothyroidism",
"autoimmune thyroiditis",
"FD",
"FD",
"overt autoimmune hypothyroidism"
] | [
"X-linked recessive disorder"
] | [
"nonautoimmune thyroid dysfunction",
"goiter",
"stunted growth",
"burning pain in his feet"
] | [
"levothyroxine replacement therapy"
] | null | [
"lysosomal α-galactosidase A deficiency",
"low blood α-galactosidase A activity"
] | null |
fabry:21952291 | Left ventricular noncompaction in a patient with fabry disease: overdiagnosis, morphological manifestation of fabry disease or two unrelated rare conditions in the same patient? | [
"We report a clinical case of a young female with Fabry disease but without left ventricular hypertrophy, which fulfills the diagnostic criteria of left ventricular noncompaction (LVNC). To our knowledge, this is the first report of LVNC in a patient with Fabry disease. The possibility of an overdiagnosis of LVNC i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a clinical case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n young\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Fabry disease",
"LVNC",
"Fabry disease",
"LVNC",
"LVNC",
"LVNC",
"LVNC",
"LVNC",
"cardiomyopathy",
"LVNC",
"Fabry disease"
] | null | [
"left ventricular noncompaction (LVNC)"
] | null | null | null | [
"without left ventricular hypertrophy",
"overdiagnosis",
"limited usefulness of genetic testing"
] |
fabry:21946453 | [Early diagnosis of Fabry disease in children]. | [
"Fabry disease, a rare X-linked lysosomal storage disorder, is caused by deficiency of the enzyme α-galactosidase A. The incidence, ranging from one over 40 000 to one over 11 7000 worldwide is probably underestimated due to its unspecific pattern of presentation. The symptoms, including neurological, gastrointesti... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Anderson-Fabry disease",
"Fabry disease"
] | [
"rare X-linked",
"GLA gene",
"nucleotide substitution c.352C>T (p.Arg 118 Cys) in the eson 2 with"
] | [
"neurological, gastrointestinal, renal, ophthalmological and dermatologic manifestations",
"multiorgan dysfunction",
"life-threatening complications",
"end-stage renal disease",
"cardiomyopathy",
"stroke",
"reduction of major organs failure",
"morbidity and mortality",
"acroparesthesias",
"severe ... | [
"enzyme replacement therapy",
"overweight",
"enzyme replacement therapy",
"using agasidase alfa at a dose of 0.2 mg/kg infused intravenously every two weeks"
] | null | [
"α-galactosidase A activity was deficient in plasma and normal in peripheral leukocytes",
"residual enzyme activity of the 29%"
] | [
"physical examination was within normal limits",
"excluded any major organ involvement",
"no relief in the symptoms",
"without any severe adverse reactions"
] |
fabry:30532879 | Mid-ventricular obstruction occurred in hypertrophic left ventricle of heterozygous Fabry's disease-Favorable effects of cibenzoline: A case report. | [
"A 54-year-old woman visited our hospital because of palpitation and dizziness. Systolic ejection murmur, Levine IV/VI, was heard at the left sternal border and atrial gallop was auscultated at apex. Echocardiogram demonstrated diffuse hypertrophy of the left ventricular walls extending to the apex. The left ventri... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 54-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | null | [
"palpitation",
"dizziness",
"Systolic ejection murmur, Levine IV/VI, was heard at the left sternal border",
"atrial gallop was auscultated at apex",
"diffuse hypertrophy of the left ventricular walls extending to the apex",
"The left ventricular walls increased symmetrically; the septal and the posterior ... | [
"intravenous administration of 70 mg of cibenzoline",
"administration of cibenzoline"
] | null | [
"leukocyte α-galactosidase A activity was lower than normal"
] | null |
fabry:21862460 | Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient. | [
"We report a 41-year-old Chinese female with Fabry disease and diffuse thinning of the glomerular basement membrane (GBM). The patient presented with peripheral edema, mild proteinuria, microscopic hematuria, normal renal function, hypertension and tinnitus. Family screening showed that her daughter had microscopic... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 41-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry disease",
"focal segmental glomerulosclerosis",
"Fabry disease"
] | [
"de novo novel GLA mutation, 1208 ins 21 bp,"
] | [
"diffuse thinning of the glomerular basement membrane (GBM)",
"peripheral edema",
"hypertension",
"tinnitus",
"familial hematuria"
] | null | [
"Chinese"
] | [
"mild proteinuria",
"microscopic hematuria"
] | [
"normal renal function"
] |
fabry:21786514 | [Diagnostic problems in a 17-year-old patient with gastrointestinal manifestations of Fabry disease]. | [
"Fabry disease is a rare X-linked recessive lysosomal storage disorder caused by deficiency of lysosomal enzyme alpha-galactosidase, which leads to accumulation of globotriasylceramides (GL-3) in visceral tissues and vascular endothelium, causing multi-organ failure. We presenta case of Fabry disease in a 17-year-o... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"non-inflammatory bowel diseases",
"Raynaud syndrome",
"polimyositis",
"mitochondrial cytopathies",
"intestinal lypodystrophies",
"Fabry disease",
"Fabry disease",
"metabolic disorders"
] | [
"rare X-linked recessive"
] | [
"multi-organ failure",
"mainly gastrointestinal manifestations",
"Significant and progressive weight loss",
"abdominal pain",
"vomiting",
"cachexia",
"symptoms of intenstinal pseudo-obstruction syndrome",
"necrosis of the colon",
"progressive cachexia",
"gastrointestinal symptoms",
"Heart and re... | [
"surgical treatment",
"parenteral nutrition"
] | null | [
"deficiency of lysosomal enzyme alpha-galactosidase",
"plasma alpha-galactosidase was measured"
] | null |
fabry:21755431 | Progressive renal failure despite long-term biweekly enzyme replacement therapy in a patient with Fabry disease secondary to a new α-galactosidase mutation of Leu311Arg (L311R). | [
"A 37-year-old Japanese man affected by Fabry disease secondary to a novel mutation of Leu311Arg (L311R) in α-galactosidase demonstrated progressive renal failure despite biweekly enzyme replacement therapy (ERT) for approximately 10 years. Kidney biopsy revealed foamy glomerular epithelial cells, compatible with 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 37-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"Fabry disease"
] | [
"novel mutation of Leu311Arg (L311R) in α-galactosidase"
] | [
"progressive renal failure"
] | [
"entered a phase III study of Replagal (agalsidase alfa)",
"continue ERT with biweekly dosing for almost 10 years",
"continued on Fabrazyme (agalsidase beta) biweekly dosing",
"biweekly ERT"
] | [
"Japanese"
] | [
"estimated GFR was calculated to decrease by 9.9 mL/min/1.73 m(2) per year",
"mean decrease in GFR of 12.2 ± 8.1 mL/min/1.73 m(2) per year",
"loss of kidney function"
] | [
"despite biweekly enzyme replacement therapy (ERT) for approximately 10 years"
] |
fabry:21738355 | A case of Fabry's disease with congenital agammaglobulinemia. | [
"Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disorder",
"congenital agammaglobulinemia",
"congenital agammaglobulinemia",
"Fabry's disease",
"combination of the two syndromes",
"Fabry's disease with congenital agammaglobulinemia"
] | [
"X-linked",
"abnormalities in the α-galactosidase A (GLA) gene",
"mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence",
"distance between the loci in the Xq22 region of the human X chromosome",
"69 kilobases"
] | [
"progressive multiple organ dysfunctions",
"recurrent pyogenic infections",
"typical clinical and laboratory and histopathological findings"
] | null | null | [
"GLA deficiency",
"suppresses B cell maturation"
] | null |
fabry:21641253 | Diagnostic dilemma: a young woman with Fabry disease symptoms, no family history, and a "sequencing cryptic" α-galactosidase a large deletion. | [
"Fabry disease, an X-linked lysosomal storage disorder, results from the deficient activity of α-galactosidase A (α-Gal A). In affected males, the clinical diagnosis is confirmed by the markedly decreased α-Gal A activity. However, in female heterozygotes, the α-Gal A activity can range from low to normal due to ra... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder"
] | [
"X-linked",
"heterozygotes",
"random X-chromosomal inactivation",
"α-Gal A mutation",
"large α-Gal A deletion",
"heterozygosity",
"large deletions (>50bp)",
"suspect heterozygotes for X-linked and autosomal dominant diseases"
] | [
"occasional acroparesthesias",
"corneal opacities"
] | [
"enzyme replacement therapy"
] | null | [
"deficient activity of α-galactosidase A (α-Gal A)",
"markedly decreased α-Gal A activity",
"the α-Gal A activity can range from low to normal",
"15 to 50% of the lower limit of normal leukocyte α-Gal A activity"
] | [
"did not identify a confirmatory mutation"
] |
fabry:21623772 | Fabry disease 'The New Great Imposter': results of the French Observatoire in Internal Medicine Departments (FIMeD). | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder due to α-galactosidase A deficiency. It is associated with a broad range of clinical symptoms, resulting in frequent misdiagnosis and diagnostic delay, which may impact on patient outcomes. This retrospective observational study of 58 FD patients referre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD",
"FD"
] | [
"X-linked"
] | [
"pain in extremities",
"angiokeratoma"
] | [
"early therapy with enzyme replacement therapy"
] | [
"France"
] | [
"α-galactosidase A deficiency"
] | null |
fabry:21605293 | Fabry disease and Factor V Leiden: a potent vascular risk combination. | [
"A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio. Subsequent investigation revealed a second genetic diagnosis of Fabry disease. He then had an acute myocardial infarction whilst on aspiri... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 45-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease"
] | [
"heterozygous Factor V Leiden"
] | [
"third cerebrovascular accident",
"acute myocardial infarction"
] | [
"aspirin and warfarin"
] | null | null | [
"despite being on warfarin at a therapeutic international normalized ratio"
] |
fabry:21549080 | A family with Fabry disease diagnosed by a single angiokeratoma. | [
"This case presents a 39-year-old gentleman with a single angiokeratoma on the abdomen. Because of a family history of early onset cardiac disease, testing for Fabry disease was performed and a mis-sense mutation (A143T) in the Fabry gene confirmed the diagnosis. The unusual aspect of this case is that the patient ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case presents a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 39-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; bord... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"mis-sense mutation (A143T) in the Fabry gene"
] | [
"single angiokeratoma on the abdomen",
"single angiokeratoma",
"solitary angiokeratoma",
"solitary angiokeratoma"
] | [
"enzyme replacement therapy"
] | null | null | [
"otherwise had normal health",
"no suggestive personal or family history was given for any of the patients"
] |
fabry:21523672 | [Cardiac involvement in Fabry's disease - typical disease course and diagnostic problems]. | [
"Fabry disease is a rare X-linked recessive lysosomal storage disease, which can cause a wide range of systemic symptoms. A deficiency of the enzyme alpha galactosidase A due to mutation causes a glycolipid to accumulate within the blood vessels, other tissues, and organs. This accumulation leads to an impairment 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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease"
] | [
"rare X-linked recessive",
"mutation"
] | [
"systemic symptoms",
"impairment of proper heart function"
] | null | null | [
"deficiency of the enzyme alpha galactosidase A"
] | null |
fabry:21457158 | Late-onset Fabry disease associated with angiokeratoma of Fordyce and multiple cherry angiomas. | [
"Fabry disease (FD) is a lysosomal storage disorder. The prevalence and clinical spectrum is higher than previously thought. The average time between onset of symptoms and diagnosis is 10 years. Early identification of patients is essential to institute enzyme therapy and reduce morbidity. We report the case of a 7... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD"
] | [
"mutation in exon 5 of the GLA gene"
] | [
"loss of consciousness",
"exertional chest pain",
"tortuous corneal vessels",
"> 100 cherry angiomas on his trunk",
"angiokeratomas on his scrotum",
"angiokeratoma of Fordyce",
"angiokeratoma",
"multiple cherry angiomas",
"cardiac disease"
] | [
"enzyme therapy"
] | null | [
"α-galactosidase levels were low"
] | null |
fabry:21420783 | Young woman with recurrent ischemic strokes diagnosed as Fabry disease: lessons learned from a case report. | [
"Several epidemiologic studies suggest that Fabry disease should be considered in young patients with cryptogenic stroke. We report a case of a young woman presenting with recurrent ischemic strokes who was finally diagnosed with Fabry disease after impaired kidney function had been identified. Fabry disease should... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Several epidemiologic studies suggest that \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bo... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"chronic kidney disease",
"Fabry disease"
] | null | [
"cryptogenic stroke",
"recurrent ischemic strokes",
"first or recurrent strokes",
"strokes",
"second ischemic event",
"ischemic stroke"
] | [
"intravenous thrombolysis",
"thrombolysis"
] | null | [
"impaired kidney function",
"proteinuria"
] | null |
fabry:21412034 | Fabry's disease and psychosis: causality or coincidence? | [
"A 21-year-old female with Fabry's disease (FD) presented acute psychotic symptoms such as delusions, auditory hallucinations and formal thought disorders. Since the age of 14, she had suffered from various psychiatric symptoms increasing in frequency and intensity. We considered the differential diagnoses of prodr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 21-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease (FD)",
"organic schizophrenia-like disorder"
] | null | [
"acute psychotic symptoms such as delusions",
"auditory hallucinations",
"formal thought disorders",
"various psychiatric symptoms",
"prodromal symptoms of schizophrenia",
"minor CNS involvement of FD",
"mere coincidence of FD and psychotic symptoms"
] | null | null | null | [
"no pathological findings",
"without functional limitations"
] |
fabry:21299350 | Unexpected Fabry disease in a renal allograft kidney: an underrecognized cause of poor allograft function. | [
"Fabry disease is an X-linked recessive lysosomal storage disease caused by a deficiency of α-galactosidase A, with characteristic ultrastructural cytoplasmic myelin-like inclusions. Renal lesions are seen in male and variably in heterozygous female patients. One previous report has described Fabry disease involvin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive",
"heterozygous"
] | [
"Renal lesions",
"graft dysfunction"
] | [
"renal allograft",
"deceased female",
"renal transplantation"
] | null | [
"deficiency of α-galactosidase A",
"proteinuria"
] | [
"no history of Fabry disease"
] |
fabry:21281467 | Persistent increase in cardiac troponin I in Fabry disease: a case report. | [
"Hypertrophic cardiomyopathy is a frequent manifestation in Fabry disease (FD) - an X-linked lysosomal storage disorder caused by reduced activity of the enzyme α-galactosidase A. In FD an elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI) has been reported in case of clinical manifestation... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Hypertrophic cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-ra... | [
"Hypertrophic cardiomyopathy",
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD",
"FD",
"FD"
] | [
"X-linked"
] | [
"clinical manifestation suggestive of myocardial ischemia",
"acute myocardial infarction",
"cardiac involvement",
"marked left ventricular hypertrophy",
"focal late Gadolinium enhancement",
"cardiac involvement",
"persistence in a symptom free interval",
"direct damage of myocytes"
] | null | null | [
"elevation of specific cardiac biomarkers, such as cardiac troponin I (cTNI)",
"cTNI",
"persistently increased cTNI level (lowest value 0.46 ng/ml, highest value 0.69 ng/ml; normal range <0.05 ng/ml) over a period of 5 months",
"persistent cTNI release",
"cTNI"
] | [
"lacking cardiac clinical signs",
"renal insufficiency did not explain the degree of cTNI elevation"
] |
fabry:21211676 | [Fabry's disease revealed by stroke: a case report]. | [
"We report a 35-year-old man with a stroke as the presenting feature of Fabry's disease. Cerebrovascular manifestation can be the first manifestation of this disease and must be systematically evoked by the neurologist. The neurological follow-up of these patients must be systematic."
] | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 35-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius... | [
"Fabry's disease"
] | null | [
"stroke",
"Cerebrovascular manifestation"
] | null | null | null | null |
fabry:21211675 | [Efficacy of replacement enzyme therapy on central nervous system manifestations in Fabry's disease]. | [
"Fabry's disease (FD) an X-linked inherited lysosomal sphingolipidosis leads to a multisystemic disease. The efficacy of replacement enzyme therapy on the central nervous system manifestations has not been evaluated.",
"A 38-year-old patient suffered from a Fabry's disease diagnosed at the age of 10. Since the ag... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"lysosomal sphingolipidosis",
"multisystemic disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"X-linked inherited"
] | [
"central nervous system manifestations",
"repeated ischemic strokes",
"central nervous system involvement",
"central nervous system involvement"
] | [
"replacement enzyme therapy",
"enzyme replacement therapy (agalsidase beta, 1 mg/kg/14 days)",
"initiation of the enzyme therapy",
"enzyme replacement therapy",
"Enzyme replacement therapy"
] | null | null | [
"No new clinical event occurred during the follow-up",
"imaging did not evidence new lesion",
"No new lesion appeared"
] |
fabry:21211671 | [Fabry disease among hypertrophic cardiomyopathy of genetic origin]. | [
"Primary hypertrophic cardiomyopathy is a relatively frequent disease (1/500) which results from a mutation in a gene encoding a sarcomeric protein. In a series of 184 cases, nearly half (46 %) were secondary to a mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2. In Fabry disease, an exclusive ... | [
"<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 Primary hypertrophic cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Primary hypertrophic cardiomyopathy",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"hypertrophic cardiomyopathy",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"mutation in a gene encoding a sarcomeric protein",
"mutation in one of the 4 following genes : MYBPC3, MYH7, TNNI3, TNNT2"
] | [
"exclusive or nearly exclusive cardiac expression",
"cardiac variant\"",
"hypertrophic cardiomyopathy",
"specific lesions in myocardial biopsies",
"common hypertrophic cardiomyopathy",
"ECG",
"depression of ST segment and inversion of T wave in leads D1, VL and in precordial leads",
"isolated common h... | null | [
"Italian"
] | null | [
"not associated with any obvious cause"
] |
fabry:21211670 | [Diagnosis of Fabry disease: usefulness of the clinical investigation]. | [
"Fabry disease, an X-linked lysosomal storage disorder due to alpha-galactosidase A deficiency, leads to an accumulation of globotriaosylceramide resulting in a multisystemic disorder. The initial manifestations of the disease are not specific, leading to a delayed diagnosis. We report a patient in whom the diagnos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"multisystemic disorder"
] | [
"X-linked"
] | null | [
"enzyme replacement therapy (agalsidase β, 1 mg/kg/14 days)"
] | null | [
"alpha-galactosidase A deficiency"
] | null |
fabry:21211667 | [Priapism: a severe paediatric complication of Fabry disease]. | [
"Fabry disease is an X-linked recessive lysosomal storage disorder caused by α-galactosidase A deficiency. Although the disease presents in childhood, diagnosis is often delayed to adulthood or missed, presumably due to the lack of specificity of the symptoms and to the absence of major complication during the paed... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive"
] | [
"priapism",
"priapism",
"priapism",
"severe vascular complication",
"major disease-associated morbidity"
] | [
"repeated corporeal aspiration under general anaesthesia",
"enzyme replacement therapy"
] | null | [
"α-galactosidase A deficiency"
] | null |
fabry:21211666 | [Azoospermia as a new feature of Fabry disease]. | [
"This case report describes two cases of azoospermia in men suffering from Fabry disease. Testicular biopsies revealed characteristic aspects of trihexosid ceramid deposit in the Leydig cells by optic and electronic microscopic analysis. Using TESE and ICSI, sperm retrieval led to pregnancies and deliveries of heal... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">This case report describes two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n azoospermia\n <span style=\"font-size: 0.8em; font-weight: bold; l... | [
"azoospermia",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"pregnancies"
] | [
"TESE",
"ICSI",
"sperm retrieval",
"deliveries of healthy children",
"agalsidase therapy",
"sperm cryopreservation"
] | null | [
"Azoospermia"
] | null |
fabry:21161319 | Poikilothermia in a 38-year-old Fabry patient. | [
"A Fabry patient with poikilothermia is described. Laboratory investigations, neuro-imaging and autonomic function tests did not disclose a cause. Assessment of intra-epidermal nerve fibre density and quantitative sensory testing revealed small fibre neuropathy with a highly impaired cold sensation. We speculate th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vertic... | [
"Fabry",
"small fibre neuropathy",
"small fibre neuropathy"
] | null | [
"poikilothermia",
"highly impaired cold sensation",
"poikilothermia",
"vascular lesion in the hypothalamus not visible on MRI",
"disturbed body temperature perception",
"impaired thermoregulation"
] | null | null | null | [
"did not disclose a cause"
] |
fabry:21088081 | Cardiac magnetic resonance imaging illustrating Anderson-Fabry disease progression. | [
"Anderson-Fabry disease is an X-linked lysosomal storage disorder resulting from a deficiency of the enzyme α-galactosidase A (α-Gal A) and subsequent cellular storage of the enzyme's substrate globotriaosylceramide (Gb3) and related glycosphingolipids. We report a case of Anderson-Fabry disease with cardiac involv... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius:... | [
"Anderson-Fabry disease",
"lysosomal storage disorder",
"Anderson-Fabry disease"
] | [
"X-linked"
] | [
"cardiac involvement",
"Disease progression"
] | null | null | [
"deficiency of the enzyme α-galactosidase A (α-Gal A)"
] | [
"despite enzyme replacement therapy"
] |
fabry:20962444 | Fabry disease exhibiting recurrent stroke and persistent inflammation. | [
"We describe two cases of Fabry disease in non-blood-related Japanese men, manifesting recurrent stroke even after the start of enzyme replacement therapy. Both exhibited chronic inflammation and ocular involvement with elevated levels of serum C reactive protein prior to the onset of stroke. We, therefore, suggest... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe two cases of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1... | [
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"recurrent stroke",
"chronic inflammation",
"ocular involvement",
"of stroke",
"persistent inflammation",
"ocular involvement",
"recurrent stroke",
"cryptogenic stroke",
"CNS manifestations",
"fever of unknown origin"
] | [
"enzyme replacement therapy"
] | [
"Japanese"
] | [
"elevated levels of serum C reactive protein"
] | [
"non-blood-related",
"even after the start of enzyme replacement therapy",
"no improvement in inflammatory signs or laboratory data"
] |
fabry:20929308 | Electron microscopy in end stage renal disease: a case of Fabry's disease. | [
"Fabry's disease is an X-linked error of metabolism with deficiency of the enzyme α-glycosidase A, and glycosphingolipid accumulation in multiple tissues. Patients may be asymptomatic and present with advanced disease. We report a case of a 38 year old white male who presented with end stage renal disease of... | [
"<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",
"end stage renal disease of unknown etiology",
"Fabry's disease",
"Fabry's disease",
"hereditary disorders involving the kidney"
] | [
"X-linked error of metabolism",
"genetic involvement"
] | [
"multiple episodes of rejection"
] | [
"received a living-related donor kidney transplant (mother)"
] | [
"white"
] | [
"deficiency of the enzyme α-glycosidase A"
] | [
"asymptomatic",
"lost the graft after 10 years"
] |
fabry:20878300 | [Females with Fabry's disease - an interdisciplinary diagnostic and therapeutic challenge]. | [
"Fabry's disease is a rare genetic storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of various organs. Being X-chromosomal-linked, most studies in the past focused on involvement in male patients. However, it has been elucidated recently that female patients can present typical... | [
"<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 genetic storage disorder",
"Fabry"
] | [
"X-chromosomal-linked"
] | [
"typical organ involvement",
"organ involvement"
] | null | null | null | null |
fabry:20852936 | Case report: Long-term outcome post-heart transplantation in a woman with Fabry's disease. | [
"Fabry's disease is an X-linked recessive disorder that results from the deficiency of alpha-galactosidase A and causes the accumulation of globotriaosylceramide (Gb3) in different tissues. It leads to a rare form of cardiomyopathy which may be complicated by end-stage heart failure and need to heart transplant. Ou... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"cardiomyopathy",
"cardiomyopathy",
"Fabry's disease",
"Fabry's",
"end-stage cardiomyopathy"
] | [
"X-linked recessive disorder"
] | [
"end-stage heart failure"
] | [
"heart transplant",
"heart transplant",
"kidney transplant",
"transplant",
"Heart transplantation"
] | null | [
"deficiency of alpha-galactosidase A"
] | [
"no evidence of Fabry's disease in any of the endomyocardial biopsies"
] |
fabry:20830268 | Early diagnosis of fabry disease in a patient with toe tip pain. | [
"Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of bo... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked",
"mutation of the GLA gene"
] | [
"pricking and burning pain in the toe tips of both feet",
"pain with a peripheral neuropathic component",
"history of anhidrosis"
] | [
"Continuous epidural infusion for pain management",
"Enzyme replacement therapy"
] | null | [
"deficiency of α-galactosidase"
] | [
"oral analgesics ineffectiveness",
"pain was tolerated with oral analgesics"
] |
fabry:20730727 | Cardiac magnetic resonance imaging in patients with Fabry's disease. | [
"Fabry's disease (FD) is a rare hereditary disorder caused by the loss of alpha galactosidase A activity leading to accumulation of glycosphingolipids in various organs including hypertrophy of the heart. Most reports on cardiac involvement in FD focus on the left ventricular hypertrophy (LVH) and its relation to d... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"FD",
"FD",
"FD",
"FD",
"FD",
"concentric and diffuse LVH"
] | [
"rare hereditary disorder"
] | [
"cardiac involvement",
"left ventricular hypertrophy (LVH)",
"diastolic function",
"right ventricle (RV) hypertophy",
"typically localised regions of intramyocardial fibrosis (infero-lateral segments of the LV)",
"typical concentric and diffuse pattern of LVH with RV involvement",
"most severe LVH",
"... | null | null | [
"loss of alpha galactosidase A activity"
] | [
"inefficacious response to enzyme replacement therapy",
"without significant impact on RV function and volumes"
] |
fabry:20654270 | [A family with a rare disease]. | [
"Fabry disease (FD) is a rare disorder resulting from mutations of the alpha-Galactosidase A lysosomal enzyme gene. Accumulation of enzyme substrates leads to multisystemic clinical manifestations and multiorgan progressive damage with high morbidity and mortality. Recombinant enzyme replacement therapy (RERT) now ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"sinus node disease",
"FD",
"bacterial endocarditis",
"FD"
] | [
"rare disorder",
"mutations of the alpha-Galactosidase A lysosomal enzyme gene"
] | [
"multisystemic clinical manifestations",
"multiorgan progressive damage",
"bone pain",
"coarse facies",
"angiokeratomas",
"renal failure",
"valvular disease",
"massive left ventricular hypertrophy",
"brain ischemic alterations",
"death",
"chronic cough",
"sinus bradycardia",
"long QT interva... | [
"Recombinant enzyme replacement therapy (RERT)",
"hospital admission",
"RERT"
] | null | [
"anemia",
"proteinuria",
"near-nephrotic proteinuria"
] | null |
fabry:20567910 | Enzyme replacement therapy in a patient with Fabry disease and the development of IgE antibodies against agalsidase beta but not agalsidase alpha. | [
"Fabry disease is an X-linked inherited lysosomal storage disorder caused by an inborn deficiency of the enzyme α-galactosidase A. Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes is an effective treatment. Cross-reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked inherited"
] | [
"severe atopic dermatitis",
"several years of peripheral pain during the summer months",
"exercising",
"high temperature in his hands and feet",
"purulent eczema developed",
"its duration decreased",
"severe infusion-related events"
] | [
"Enzyme replacement therapy (ERT) with agalsidase alpha or beta isozymes",
"ERT",
"infusion of agalsidase beta (1.0 mg/kg)",
"infusion dose was reduced to 0.2 mg/kg",
"three infusions",
"four infusions with agalsidase beta",
"Treatment with this enzyme was discontinued",
"agalsidase alpha (0.2 mg/kg) ... | null | [
"Cross-reactivity of immunoglobulin G (IgG) antibodies with agalsidase alpha and beta",
"IgE antibodies",
"antiagalsidase beta IgE antibodies",
"eosinophilia developed (9.4%; 573 cells/μl blood)",
"remained unresolved",
"immediate resolution of the eosinophilia",
"IgE antibodies against agalsidase beta"... | [
"without cross-reactivity to agalsidase alpha",
"hyperthermia did not change",
"no cross-reactivity to agalsidase alpha"
] |
fabry:20492401 | Treatment with agalsidase beta during pregnancy in Fabry disease. | [
"Fabry disease is an X-linked lysosomal storage disease caused by a deficiency of alpha-galactosidase A, which leads to excessive accumulation of glycosphingolipids in most tissues in the body, with life-threatening clinical consequences in the kidney, heart, and cerebrovascular system. Enzyme replacement therapy u... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"multisystem progressive disease",
"Fabry disease"
] | [
"X-linked",
"X-linked"
] | [
"life-threatening clinical consequences in the kidney, heart, and cerebrovascular system"
] | [
"Enzyme replacement therapy using exogenously produced alpha-galactosidase",
"preparations of enzyme replacement therapy for Fabry disease",
"agalsidase alfa and agalsidase beta",
"pregnancy",
"agalsidase beta"
] | null | [
"deficiency of alpha-galactosidase A"
] | null |
fabry:20478016 | Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report. | [
"The co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the en... | [
"<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 co-existence of two genetically distinct metabolic disorders\n <span style=\"font-size: 0.8em; font-we... | [
"co-existence of two genetically distinct metabolic disorders",
"Phenylketonuria (PKU)",
"inborn error of the metabolism",
"Fabry disease (FD)",
"lysosomal storage disorder",
"classic PKU",
"FD",
"FD",
"co-existence of FD and PKU",
"FD"
] | [
"X-linked",
"two different congenital inborn of metabolism"
] | [
"non-specific GI symptoms",
"severe abdominal pain",
"periodically appearance of not specific episodes of gastroenteritis)",
"lack of appetite",
"severe abdominal pain",
"non-specific gastroenteritis episodes"
] | null | null | [
"phenylalanine hydroxylase deficiency"
] | [
"non related to PKU"
] |
fabry:20386777 | Unusual scarring patterns on cardiac magnetic resonance imaging: A potentially treatable etiology not to be missed. | [
"A case of cardiomyopathy and ventricular tachycardia previously assumed to be idiopathic in origin is described. Investigation with cardiac magnetic resonance imaging prompted the diagnosis and successful treatment of an underlying disorder based on typical scarring patterns seen with late gadolinium enhancement. ... | [
"<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 cardiomyopathy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"cardiomyopathy",
"cardiomyopathy"
] | null | [
"ventricular tachycardia",
"scarring patterns seen with late gadolinium enhancement",
"typical scarring patterns"
] | [
"disease-specific therapy"
] | null | null | [
"previously assumed to be idiopathic in origin",
"absence of other disease features"
] |
fabry:20300124 | Cerebral hemorrhage in Fabry's disease. | [
"Fabry's disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency. Although ischemic stroke is recognized as an important manifestation of Fabry's disease, hemorrhagic stroke is considered to be rare. Here, we report our recent clinical experience with three hemizygous male ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"lysosomal storage disorder",
"Fabry's disease",
"Fabry's disease",
"classic type Fabry's disease",
"Fabry's disease"
] | [
"X-linked",
"hemizygous male",
"p.Ala37Val mutation",
"cerebrovascular variant",
"p.Glu66Gln mutation"
] | [
"ischemic stroke",
"hemorrhagic stroke",
"cerebral hemorrhage",
"Degeneration of the cerebral small arteries",
"hypertension",
"hemorrhage",
"ischemic",
"hemorrhagic stroke"
] | [
"antiplatelet/anticoagulant agents"
] | null | [
"alpha-galactosidase A deficiency"
] | null |
fabry:20189642 | Analysis of placental tissue in Fabry disease with and without enzyme replacement therapy. | [
"There are only a few reports on the histology of placental tissue of pregnancies from mothers with Fabry disease. Fabry disease is a lysosomal disorder caused by alpha-galactosidase A deficiency. Extensive glycosphingolipid (GSL) accumulation in fetal and maternal placenta tissue obtained from a Fabry mother and h... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are only a few reports on 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 histology of placental tissue\n <span style=\"font-size: 0.8em; font-w... | [
"pregnancies",
"Fabry disease",
"Fabry disease",
"lysosomal disorder",
"Fabry",
"pregnancies",
"Fabry",
"placenta B"
] | null | null | [
"treated with recombinant alpha-galactosidase A (enzyme replacement therapy, ERT) during the pregnancy",
"ERT"
] | null | [
"alpha-galactosidase A deficiency",
"placental GSL accumulation"
] | [
"No accumulation was seen in both placentae"
] |
fabry:20155722 | New mutation in female patient with renal variant of Fabry disease and HIV. | [
"We describe the case of a 27-year-old woman with a family history of Anderson-Fabry disease (AFD). Urinary sediment presented microhematuria and 0.9 g/24 hours proteinuria. The alpha-galactosidase A measurement in fibroblasts showed partial deficit of the enzyme, which was compatible with being a carrier of the il... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe 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 27-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1;... | [
"HIV disease"
] | [
"mutation C52Y or Cys52Tyr"
] | null | [
"enzymatic substitution treatment"
] | null | [
"microhematuria",
"0.9 g/24 hours proteinuria",
"alpha-galactosidase A measurement in fibroblasts",
"partial deficit of the enzyme",
"hypergammaglobulinemia"
] | null |
fabry:20148840 | A case of multiple angiomas without any angiokeratomas in a female heterozygote with Fabry disease. | [
"Fabry disease is a rare, X-chromosome-linked lysosomal storage disease caused by a deficient alpha-galactosidase A enzyme. The disease manifests primarily in affected hemizygous males and to some extent in heterozygous females ('carrier'). A 45-year-old female Fabry disease patient without angiokeratomas but with ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | [
"X-chromosome-linked",
"hemizygous males",
"heterozygous"
] | [
"numerous angiomas",
"missing typical lesions",
"angiokeratomas"
] | null | null | [
"deficient alpha-galactosidase A enzyme",
"leukocyte alpha-galactosidase A activity was reduced (0.35 nmol/min/mg protein; normal range: 0.4-1)",
"reduced leukocyte alpha-galactosidase A activity in her father, who suffered exclusively from coronary heart disease"
] | [
"without angiokeratomas"
] |
fabry:20121396 | Fabry disease complicating pregnancy. | [
"Few cases of Fabry disease, an X-linked lysosomal storage disorder, complicating pregnancy are reported.",
"A 36-year-old primigravida with known Fabry disease manifest with acroparesthesias, tinnitus, and hearing loss delivered a healthy unaffected infant at term.",
"A symptomatic Fabry carrier may experience... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Few 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 disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry disease",
"lysosomal storage disorder",
"complicating pregnancy",
"Fabry disease",
"Fabry carrier"
] | [
"X-linked"
] | [
"acroparesthesias",
"tinnitus",
"hearing loss",
"otherwise uncomplicated pregnancy"
] | [
"delivered a healthy unaffected infant at term"
] | [
"primigravida"
] | null | [
"absence of vital organ involvement"
] |
fabry:20120409 | Neurological manifestation of Fabry disease--a case report. | [
"Fabry disease is an X-linked recessive glycolipid storage disease. It is caused by deficiency of the lysosomal enzyme alpha-galactosidase A and leads to the accumulation of the enzyme substrate, globotriasylceramide (Gb3) in many tissues including endothelial cells, pericytes and smooth muscle cells of blood vesse... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"glycolipid storage disease",
"Fabry disease",
"Fabry disease"
] | [
"X-linked recessive"
] | [
"ischemic stroke in pons",
"Angiokeratomas",
"neuropathic pain",
"ischemic stroke",
"stroke",
"angiokeratomas",
"neuropathic pain in toes and fingers"
] | null | null | [
"deficiency of the lysosomal enzyme alpha-galactosidase A",
"proteinuria"
] | [
"previously been misdiagnosed as polimyositis and vasculitis"
] |
fabry:20102445 | Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame? | [
"Fabry disease is an X-linked multisystem disorder due to alpha galactosidase A deficiency leading to glycosphingolipid accumulation with a predilection for the vascular endothelium and affecting the cardiovascular, renal, and neurologic systems.",
"To report a familial cluster of priapism in three males from a f... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"multisystem disorder",
"Fabry disease",
"G6PD",
"Fabry disease",
"G6PD",
"Fabry",
"Fabry disease",
"priapism",
"G6PD",
"Fabry disease"
] | [
"X-linked",
"NO metabolism"
] | [
"predilection for the vascular endothelium",
"and affecting the cardiovascular, renal, and neurologic systems",
"Priapism",
"priapism",
"priapism",
"priapism",
"priapism",
"Fabry disease manifestations"
] | null | null | [
"alpha galactosidase A deficiency",
"Derangement in the nitric oxide (NO) pathway"
] | null |
fabry:20045092 | Uneventful pregnancy outcome after enzyme replacement therapy with agalsidase beta in a heterozygous female with Fabry disease: A case report. | [
"No reproductive studies have been performed with enzyme replacement therapy (ERT) for Fabry disease (FD, OMIM 301500), a lysosomal storage disorder. Therefore, use during pregnancy is theoretically contraindicated. We report the first case of agalsidase beta treatment throughout pregnancy. High-range proteinuria r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">No reproductive studies have been performed 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 enzyme replacement therapy (ERT)\n <span style=\"font-siz... | [
"Fabry disease (FD",
"lysosomal storage disorder"
] | [
"OMIM 301500"
] | null | [
"enzyme replacement therapy (ERT)",
"pregnancy",
"agalsidase beta treatment throughout pregnancy",
"gave birth to a healthy boy after an uncomplicated pregnancy",
"administer ERT during pregnancy"
] | null | [
"High-range proteinuria remained stable"
] | null |
fabry:22767366 | Cardiac involvement in Anderson-Fabry disease. | [
"A normotensive 50-year-old man was evaluated for cardiac symptoms associated with left ventricular hypertrophy (LFH). His symptoms were caused by cardiac involvement from Anderson-Fabry disease (AFD), an X linked lysosomal storage disease caused by mutations in the GLA gene which encodes for the lysosomal enzyme -... | [
"<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 normotensive 50-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Anderson-Fabry disease (AFD)",
"lysosomal storage disease",
"AFD",
"AFD"
] | [
"X linked"
] | [
"cardiac symptoms associated with left ventricular hypertrophy (LFH)",
"cardiac involvement",
"arrhythmias",
"irreversible life-threatening complications"
] | [
"recombinant enzyme",
"internal cardioverter defibrillator"
] | null | null | null |
fabry:20001766 | Bone and joint involvement in Fabry disease. | [
"Fabry disease (FD) is an X-linked lysosomal storage disease caused by deficient activity of the enzyme alpha-galactosidase A. Although the disease has progressive effects on most organ systems in the body, data is limited regarding skeletal involvement in this rare disorder. We describe four family-related patient... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disease",
"FD",
"neuropathic joint disease",
"osteonecrosis",
"FD"
] | [
"X-linked"
] | [
"progressive effects on most organ systems in the body",
"skeletal involvement",
"osteoporosis or osteopenia",
"osteoporotic fractures",
"osteoporosis",
"osteoarthropathy"
] | null | null | null | null |
fabry:19954039 | [Cardiac manifestations of Fabry's disease]. | [
"Fabry' s disease is a rare X-linked recessive disease. Its cardiac manifestations are not well recognized.",
"The data of 3 patients from different Chinese kindreds with Fabry's disease and cardiac manifestations who seeked medical advice in our department in 2007 were analyzed. The age, sex, family history, mai... | [
"<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: 0.35e... | [
"Fabry' s disease",
"Fabry's disease",
"Fabry's disease",
"Fabry's disease"
] | [
"rare X-linked recessive disease"
] | [
"cardiac manifestations",
"cardiac manifestations",
"typical symptoms of Fabry's disease",
"cardiac symptoms",
"ST-T change",
"hypertrophy of left ventricule of different degrees",
"cardiac symptoms",
"involvement of other organs",
"cardiac manifestations",
"typical symptoms in young age",
"char... | null | [
"Chinese"
] | [
"alpha-galactosidase (alpha-GAL) quantity in white blood cells",
"alpha-galactosidase level in white blood cells was lower than normal",
"alpha-galactosidase level",
"was the lowest"
] | null |
fabry:25949379 | Isolated microalbuminuria as the first clinical presentation of Fabry disease in an adult heterozygous female. | [
"Fabry disease (FD) is a rare X-linked disorder characterized by low or absent activity of the lysosomal enzyme α-glycosidase-A that leads to progressive accumulation of glycosphingolipids in different organs and tissues. Clinical manifestations vary from classic to atypical forms characterized by one prevalent org... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"renal variant",
"FD",
"FD",
"FD"
] | [
"rare X-linked disorder"
] | [
"one prevalent organ involvement",
"renal manifestation",
"FD organ damage",
"organ damage"
] | [
"enzyme replacement therapy (ERT)"
] | null | [
"low or absent activity of the lysosomal enzyme α-glycosidase-A",
"isolated and persistent microalbuminuria"
] | null |
fabry:19917001 | Enzyme therapy in Fabry disease: severe adverse events associated with anti-agalsidase cross-reactive IgG antibodies. | [
"To report a severe adverse event related to enzyme replacement therapy with agalsidase in an hemizygous male patient treated for Fabry disease.",
"Retrospective analysis of clinical, radiological and biochemical data in a patient who suffered adverse events related to both agalsidase alfa and agalsidase beta tre... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n severe adverse event related to enzyme replacement therapy with agalsidase\n <span style=\"fon... | [
"Fabry disease",
"Fabry disease"
] | [
"hemizygous male",
"hemizygous male"
] | [
"severe adverse event related to enzyme replacement therapy with agalsidase",
"suffered adverse events related to both agalsidase alfa and agalsidase beta treatments",
"infusion-related symptoms",
"Decline in kidney function",
"Anaphylactoid shock",
"second anaphylactoid shock episode",
"repeated anaphy... | [
"with agalsidase alfa",
"After more than 1 year of therapy",
"systemic steroids and antihistaminic therapy",
"switch for agalsidase beta",
"rechallenge infusion protocol",
"agalsidase beta was reintroduced",
"Enzyme replacement therapy was stopped",
"treated with symptomatic therapy only",
"agalsida... | null | null | [
"No serum IgE antibodies were disclosed",
"Skin-test reactivity to agalsidase beta was negative",
"negativity of immunological tests (specific anti-agalsidase IgE antibodies and skin tests)"
] |
fabry:19907117 | An autopsy case of Fabry's disease with cardiac manifestations. | [
"We report an autopsy case of Fabry's disease with cardiac manifestations. Electron microscopic examination of rectal biopsy specimens revealed lamellar bodies and osmiophilic irregular bodies. Biochemical analysis showed low enzymatic activity of alpha-galactosidase A in plasma fluid. Microscopic examination on au... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report an \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n autopsy\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease",
"Fabry's disease"
] | null | [
"cardiac manifestations",
"died",
"cardiomyopathy"
] | null | null | [
"low enzymatic activity of alpha-galactosidase A in plasma fluid"
] | null |
fabry:19876652 | A case of minimal change disease in a Fabry patient. | [
"Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the GLA gene and deficiency in alpha-galactosidase A activity. Glycosphingolipids accumulation causes renal injury that manifests early during childhood as tubular dysfunction and later in adulthood as proteinuria and renal insufficienc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disorder",
"Nephrotic syndrome",
"Fabry-related kidney damage",
"Fabry disease",
"acute nephrotic syndrome",
"Fabry disease",
"longstanding disease",
"nephrotic syndrome",
"minimal change disease",
"Fabry disease",
"acute nephrotic syndrome"
] | [
"X-linked",
"mutations of the GLA gene"
] | [
"renal injury",
"tubular dysfunction",
"renal insufficiency",
"complete remission from nephrotic syndrome",
"chronic renal injury",
"clinical and microscopic findings suggestive of minimal change disease"
] | [
"treatment with enzyme replacement therapy and oral steroids",
"immunotherapy in addition to enzyme replacement therapy"
] | null | [
"deficiency in alpha-galactosidase A activity",
"proteinuria",
"heavy proteinuria"
] | [
"normal renal function",
"no other findings suggestive of alternative causes of nephrotic syndrome"
] |
fabry:19852524 | Enzyme replacement therapy for Fabry disease: a systematic review of available evidence. | [
"Fabry disease is a progressive and life-threatening glycolipid storage disorder affecting both males and females. The primary driver of the disease is the accumulation of glycolipids (globotriaosylceramide [GL-3]) in a variety of cell types, including vascular endothelial cells, a range of renal cell types, cardio... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"life-threatening glycolipid storage disorder",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"involvement of small nerve fibres of the peripheral and autonomic nervous systems",
"severe complications involving the kidneys, heart and brain",
"premature death",
"cardiac and neurological endpoints",
"hard clinical outcomes",
"cardiac, renal or cerebrovascular events",
"death"
] | [
"enzyme replacement therapy (ERT) with agalsidase alfa 0.2 mg/kg every other week (EOW) and agalsidase beta 1.0 mg/kg EOW",
"agalsidase beta 1.0 mg/kg EOW",
"ERT",
"agalsidase alfa and agalsidase beta",
"ERT",
"ERT",
"ERT",
"ERT",
"ERT at a dose of 1 mg/kg EOW than a dose of 0.2 mg/kg EOW",
"ERT"
... | null | [
"deficient activity of the lysosomal enzyme, alpha-galactosidase",
"Plasma levels of GL-3 together with accumulation in the kidney, heart and skin",
"renal endpoints of proteinuria and glomerular filtration rate"
] | null |
fabry:19846172 | Variable phenotypic expression of chylomicron retention disease in a kindred carrying a mutation of the Sara2 gene. | [
"Chylomicron retention disease is a recessive inherited disorder characterized by fat malabsorption and steatorrhea and is associated with failure to thrive in infancy. We describe a kindred carrying a mutation of Sara2 gene causing a chylomicron retention phenotype. The proband was a 5-month-old baby, born of cons... | [
"<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 Chylomicron retention disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-... | [
"Chylomicron retention disease",
"Anderson disease"
] | [
"recessive inherited disorder",
"mutation of Sara2 gene",
"a 2-nucleotide homozygous deletion in exon 3 leading to a premature stop codon (c.75-76 del TG-L28fsX34)",
"variable phenotypic expression of the molecular defect"
] | [
"fat malabsorption",
"steatorrhea",
"failure to thrive",
"failure to thrive"
] | null | null | [
"malabsorption of fat-soluble vitamins"
] | null |
fabry:19832823 | Aseptic meningitis and ischaemic stroke in Fabry disease. | [
"Fabry disease (OMIM 301 500) is an X-linked lysosomal storage disease. Neurological symptoms in Fabry disease mainly include stroke, acroparesthesia, cranial nerve palsies and autonomic dysfunction. We report on aseptic meningitis in Fabry patients.",
"Clinical analysis, brain magnetic resonance imaging, cerebro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease",
"aseptic meningitis",
"Fabry",
"meningitis",
"associated with Fabry disease",
"Meningitis",
"Fabry disease",
"Fabry disease",
"auto-inflammatory disorder",
"Fabry disease",
"aseptic meningitis"
] | [
"OMIM 301 500)",
"X-linked"
] | [
"Neurological symptoms",
"stroke",
"acroparesthesia",
"cranial nerve palsies",
"autonomic dysfunction",
"Headache",
"fever",
"Non-neurological symptoms caused by Fabry disease",
"stroke",
"sensorineural hearing loss",
"intracranial hypertension"
] | [
"enzyme replacement therapy (ERT)",
"efficiently with steroids, associated with azathioprine"
] | null | [
"pleocytosis (mean, 36; range: 8-76 cells/mm(3))",
"high protein level (mean, 63; range, 47-70 mg/dl)",
"C-reactive protein blood levels and erythrocyte sedimentation rate were raised",
"low alpha-galactosidase A dosage"
] | [
"no normalisation of CSF under ERT alone"
] |
fabry:19818152 | Fabry disease: recent advances in pathology, diagnosis, treatment and monitoring. | [
"In Fabry disease (alpha-galactosidase A deficiency) accumulation of Globotriaosylceramide (Gb3) leads to progressive organ failure and premature death. The introduction of enzyme replacement therapy (ERT) was the beginning of a new era in this disorder, and has prompted a broad range of research activities. This r... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35e... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Anderson-Fabry disease",
"Gb3",
"Fabry disease",
"Fabry disease",
"Fabry disease",
"renal diseases",
"cardiomyopathy"
] | null | [
"progressive organ failure",
"premature death",
"cellular and organ specific damages",
"inflammatory and immunological consequences",
"TIA",
"stroke",
"pre-clinical damages",
"irreversible organ damage"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"early treatment"
] | null | [
"alpha-galactosidase A deficiency",
"alpha-galactosidase A"
] | null |
fabry:19810002 | Hemizygous Fabry disease associated with IgA nephropathy: a case report. | [
"We present a 22-year-old male patient who showed both classical Fabry disease and IgA nephropathy. He had proteinuria (1.5 g/day), hypohidrosis and neuralgia with fever. Serum creatinine and blood urea nitrogen were 0.9 mg/dL and 11.4 mg/dL, respectively. Renal biopsy showed strikingly vacuolated podocytes and tub... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 22-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radiu... | [
"classical Fabry disease and IgA nephropathy",
"classical Fabry disease and IgA nephropathy"
] | null | [
"hypohidrosis",
"neuralgia",
"fever"
] | null | null | [
"proteinuria (1.5 g/day)",
"Serum creatinine and blood urea nitrogen were 0.9 mg/dL and 11.4 mg/dL, respectively",
"markedly low level of alpha-galactosidase A activity"
] | null |
fabry:19761154 | Fabry disease: a treatable lysosomal storage disorder. | [
"Fabry disease is a lysosomal storage disease with an X-linked inheritance pattern, which presents in childhood as acroparaesthesias. Its non-specific symptoms often lead to delays in the diagnosis. We report the case of a 13-year-old boy who presented with typical acroparaesthesia of Fabry disease, his younger bro... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"lysosomal storage disease",
"Fabry disease"
] | [
"with an X-linked inheritance pattern"
] | [
"acroparaesthesias",
"typical acroparaesthesia",
"ameliorating the",
"renal failure",
"stroke",
"cardiovascular disorders"
] | [
"Enzyme replacement therapy"
] | null | null | null |
fabry:19632534 | Dilated phase of hypertrophic cardiomyopathy caused by Fabry disease with atrial flutter and ventricular tachycardia. | [
"We describe a case of a 60-year-old male with dilated phase of hypertrophic cardiomyopathy caused by Fabry disease. He was diagnosed to have a cardiac variant of Fabry disease by an enzyme assay and a right ventricular endomyocardial biopsy which revealed specific features of this disease and cardiac involvement w... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We describe a case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 60-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; b... | [
"Fabry disease",
"cardiac variant of Fabry disease",
"dilated cardiomyopathy"
] | null | [
"dilated phase of hypertrophic cardiomyopathy",
"cardiac involvement",
"sustained atrial flutter",
"frequent non-sustained ventricular tachycardia"
] | [
"isthmus ablation",
"cardiac resynchronization therapy with defibrillator"
] | null | null | null |
fabry:19631563 | A detailed pathologic examination of heart tissue from three older patients with Anderson-Fabry disease on enzyme replacement therapy. | [
"Cardiac disease causes considerable morbidity and mortality in men and women with Anderson-Fabry disease (AFD), an X-linked inborn metabolic defect caused by deficiency of the lysosomal enzyme α-galactosidase A. Treatment with recombinant enzyme preparations aims to attenuate and reverse accumulation of the major ... | [
"<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 Cardiac disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Cardiac disease",
"Anderson-Fabry disease (AFD)",
"AFD",
"AFD",
"AFD",
"AFD"
] | [
"X-linked inborn metabolic defect"
] | [
"focal myocyte apoptosis",
"myocyte necrosis",
"Extensive areas of replacement fibrosis (mean, 15%) associated with areas of myocyte disarray",
"fibrotic changes"
] | [
"Treatment with recombinant enzyme preparations",
"enzyme replacement therapy (ERT)",
"received ERT prior to death (for between 18 months and 4 years)",
"ERT",
"ERT"
] | null | null | [
"spite of ERT"
] |
fabry:19499232 | [Ocular motility disorders in a patient with Fabry's disease]. | [
"Fabry's disease (FD) is a rare lysosomal storage disorder. Early cerebral manifestations are a major and often life-threatening burden of the disease. We present a 38-year-old male FD patient with a prior history of six different episodes of stroke and newly developing ocular disorders. He presented with nystagmus... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"rare lysosomal storage disorder",
"FD"
] | null | [
"Early cerebral manifestations",
"history of six different episodes of stroke",
"newly developing ocular disorders",
"nystagmus with different wave forms and directions",
"blepharospasm",
"cornea verticillata"
] | null | null | null | null |
fabry:19473616 | Renal histology before and after effective enzyme replacement therapy in a patient with classical Fabry's disease. | [
"A 38-year-old man underwent renal biopsy because of proteinuria. It revealed swelling and vacuolation of glomerular epithelial cells, as well as myelin-like structures characteristic of Fabry's disease. Detection of decreased plasma activity of alpha-galactosidase A confirmed the diagnosis. Enzyme replacement ther... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 38-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | null | null | [
"improvement of"
] | [
"Enzyme replacement therapy",
"provided with recombinant agalsidase-beta",
"enzyme therapy"
] | null | [
"proteinuria",
"decreased plasma activity of alpha-galactosidase A"
] | null |
fabry:19399018 | Unusual renal presentation of Fabry disease in a female patient. | [
"A 29-year-old white woman with a family history of Fabry disease was referred to a nephrology clinic with hypertension and nephropathy. Her renal function was below normal (serum creatinine level 141 micromol/l; estimated glomerular filtration rate 41 ml/min/1.73 m2) with no proteinuria or albuminuria.",
"Medica... | [
"<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 29-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"hypertension",
"nephropathy",
"Fabry disease"
] | null | [
"Diffuse sclero-atrophic renal tissue changes",
"widespread renal arterio-arteriolosclerotic changes"
] | [
"Angiotensin-converting-enzyme inhibitors and maintenance treatment with agalsidase-beta, 1 mg/kg body weight, every 2 weeks"
] | [
"white"
] | [
"renal function was below normal (serum creatinine level 141 micromol/l; estimated glomerular filtration rate 41 ml/min/1.73 m2)"
] | [
"no proteinuria or albuminuria"
] |
fabry:19385495 | Angiokeratoma corporis diffusum. | [
"Angiokeratoma is a dark violaceous keratotic papule which can be solitary or multiple. Generalised systemic angiokeratoma constitute angiokeratoma corporis diffusum, a rare X-linked recessive inborn error of glycosphingolipid metabolism due to deficiency of alpha galactosidase A. Patients with this disease have pr... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Angiokeratoma\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry's disease"
] | [
"rare X-linked recessive inborn error of glycosphingolipid metabolism"
] | [
"Angiokeratoma",
"dark violaceous keratotic papule",
"solitary or multiple",
"Generalised systemic angiokeratoma",
"angiokeratoma corporis diffusum",
"premature death",
"vascular complications"
] | null | null | null | null |
fabry:19373884 | Danon disease: further clinical and molecular heterogeneity. | [
"Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried by one patient (c.928G>A) has already been reported but with diff... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Two families 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 Greek\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: ... | [
"Danon disease",
"cardiac disease"
] | [
"LAMP2 mutation",
"(c.928G>A)",
"novel point deletion",
"substitution in the GLA gene (c.937G>T)"
] | [
"subclinical to severe cardiomyopathy",
"severe cardiomyopathy",
"heart failure"
] | null | [
"Greek"
] | [
"partial reduction of alpha-galactosidase A activity"
] | [
"despite the absence of characteristic clinical features of Fabry disease"
] |
fabry:19343533 | Fabry disease in a patient with Turner syndrome. | [
"We report a unique case with co-occurrence of Turner syndrome and Fabry disease (OMIM #301500). The latter is a rare X-linked lysosomal storage disease that is characterized by partial or complete deficiency of alpha-galactosidase A (GLA; EC 3.2.1.22) following mutations in the gene (GLA) localized at Xq22.1. Accu... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report a unique case 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 co-occurrence of Turner syndrome\n <span style=\"font-size: 0.8em; font-weigh... | [
"Fabry disease",
"301500)",
"lysosomal storage disease",
"Fabry disease",
"Fabry",
"very severe Fabry disease"
] | [
"rare X-linked",
"mutations in the gene (GLA) localized at Xq22.1",
"hemizygous male",
"mutation carriers",
"heterozygous female mutation carriers",
"cells are of the 45,X type",
"hemizygous GLA mutation carrier"
] | [
"severe morbidity",
"renal failure",
"cardiac involvement",
"stroke",
"disabling clinical features",
"disease progression"
] | null | null | [
"partial or complete deficiency of alpha-galactosidase A (GLA; EC 3.2.1.22)"
] | null |
fabry:19282651 | Decline of plasma brain natriuretic peptide during enzyme replacement therapy in a female patient with heterozygous Fabry's disease. | [
"There are no data regarding changes in plasma brain natriuretic peptide (BNP) levels in patients with Fabry's diseases during enzyme replacement therapy (ERT). We describe a patient with Fabry's disease who demonstrated the improvement in plasma brain BNP levels in response to ERT. Fabry's disease is an X-linked l... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">There are no data regarding changes in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n plasma brain natriuretic peptide (BNP) levels\n <span style=\"font-... | [
"Fabry's diseases",
"Fabry's disease",
"Fabry's disease",
"lysosomal storage disorder",
"Fabry's disease",
"heterozygous Fabry's disease",
"heterozygous Fabry's disease",
"heterozygous Fabry's disease"
] | [
"X-linked"
] | [
"Cardiac involvement",
"cardiac dysfunction",
"hypertrophic changes of the myocardium",
"thickening of the valves",
"improve cardiac function",
"mitral valve thickening and regurgitation",
"cardiac function",
"heart failure"
] | [
"enzyme replacement therapy (ERT)",
"ERT",
"ERT",
"ERT",
"ERT",
"intravenous infusion of recombinant alpha-galactosidase A every 2 weeks",
"ERT",
"ERT"
] | null | [
"plasma brain natriuretic peptide (BNP) levels",
"improvement in plasma brain BNP levels",
"deficiency of the enzyme alpha-galactosidase A",
"treatment-induced drop",
"the plasma BNP level, which was 91.5 pg/ml before ERT",
", fell to 18.9 pg/ml",
"plasma BNP levels"
] | [
"cardiac function and mitral regurgitation assessed by echocardiography had not improved 18 months after the beginning of ERT",
"no improvement in echocardiographic parameters of cardiac structure and function"
] |
fabry:19185318 | Amelioration of white-matter lesions in a patient with Fabry disease. | [
"We report on a 27-year-old man with Fabry disease who had widespread white-matter lesions (WMLs) despite the absence of renal or cardiac manifestations. Genomic analysis revealed a novel mutation: a GAT deletion at nucleotide position 234-236 in exon 5 of the coding region. After 12 months of enzyme replacement th... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We report on a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 27-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-rad... | [
"Fabry disease"
] | [
"novel mutation: a GAT deletion at nucleotide position 234-236 in exon 5 of the coding region"
] | [
"widespread white-matter lesions (WMLs)",
"WMLs"
] | [
"12 months of enzyme replacement therapy (ERT)",
"ERT"
] | null | [
"Cell counts and protein levels in the cerebrospinal fluid also decreased"
] | [
"despite the absence of renal or cardiac manifestations"
] |
fabry:19161799 | Fabry disease with aortic regurgitation. | [
"Aortic regurgitation is not so rare in patients with Fabry disease. Enzyme replacement therapy has become the standard medical care for Fabry disease in recent years. A 31-year-old man with Fabry disease, treated with recombinant alpha-galactosidase enzyme replacement for 19 months was admitted for evaluation of 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 Aortic regurgitation\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry disease",
"Fabry disease",
"Fabry disease",
"Fabry disease"
] | null | [
"Aortic regurgitation",
"exertional dyspnea",
"left ventricular hypertrophy",
"increased left ventricular size",
"moderate to severe aortic regurgitation",
"myxoid degeneration of valve leaflets",
"aortic regurgitation"
] | [
"Enzyme replacement therapy",
"treated with recombinant alpha-galactosidase enzyme replacement for 19 months",
"mechanical valvular replacement",
"valvular replacement operation",
"enzyme replacement therapy"
] | null | null | null |
fabry:19158572 | Fabry disease and chemosis. | [
"To report the case of a patient with Fabry disease (FD) whose ocular presentation with chronic chemosis we feel is related to FD and to describe the conjunctival fluorescein angiographic findings.",
"A 51-year-old male patient with FD on enzyme replacement therapy presented with 1-month chemosis and mild irritat... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report the case 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 disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bol... | [
"Fabry disease (FD)",
"FD",
"FD",
"FD",
"FD"
] | null | [
"ocular presentation with chronic chemosis",
"1-month chemosis",
"mild irritation in the left eye",
"pronounced noninflammatory chemosis inferotemporally in the left eye",
"conjunctival tortuosity",
"microaneurysms bilaterally",
"mild corneal verticillata",
"spoke-like lens opacities",
"retinal vasc... | [
"enzyme replacement therapy"
] | null | null | [
"no evidence of disc or macular edema",
"no systemic cause for his chemosis",
"no evidence of an intraorbital mass",
"failed to demonstrate leakage from tortuous conjunctival vessels or microaneurysms"
] |
fabry:20847834 | Excessive Daytime Sleepiness Is a Common Symptom in Fabry Disease. | [
"Fabry disease (FD) is an X-linked lysosomal storage disorder characterized by a deficient activity of the enzyme α-galactosidase A, resulting in a vasculopathic involvement of various organ systems, e.g. cerebral structures. Marked cerebral vasculopathy with subsequent white matter lesions (WML) are a frequent fin... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"EDS",
"FD",
"FD",
"EDS",
"FD",
"EDS",
"EDS",
"EDS",
"FD",
"EDS",
"FD"
] | [
"X-linked"
] | [
"vasculopathic involvement of various organ systems, e.g. cerebral structures",
"Marked cerebral vasculopathy",
"white matter lesions (WML)",
"cerebral white matter changes",
"sleep-related disturbances of breathing",
"excessive daytime sleepiness (EDS)",
"Cheyne-Stokes respiration pattern",
"signific... | null | [
"Caucasian"
] | [
"deficient activity of the enzyme α-galactosidase A"
] | [
"no renal or cardiac involvement"
] |
fabry:19085643 | [Ophthalmological manifestations in Fabry's disease. Four clinical cases showing deficient alpha-galactosidase-A activity]. | [
"Fabry's disease is an illness produced by an alteration in the catabolism of the glycosphingolipids. We report ophthalmologic findings in 4 people, detected after 113 patient evaluations from an analytical, cardiological and genetic point of view.",
"Fabry's disease is uncommon and shows variable ophthalmologic ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry'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"
] | null | [
"ophthalmologic findings",
"variable ophthalmologic affectation",
"important ocular alterations",
"affectation at the corneal, crystalline, vascular and retinal levels",
"vascular alterations affect not only the veins but also the arteries"
] | null | null | [
"alteration in the catabolism of the glycosphingolipids"
] | [
"not present ocular affectation"
] |
fabry:18979178 | The g.1170C>T polymorphism of the 5' untranslated region of the human alpha-galactosidase gene is associated with decreased enzyme expression--evidence from a family study. | [
"Subnormal leukocyte α-galactosidase (α-Gal) activity was found during evaluation of an adolescent male with cryptogenic cerebrovascular small-vessel disease. The only molecular abnormality found was the g.1170C>T single-nucleotide polymorphism (SNP) in the 5' untranslated region of exon 1 in the α-Gal gene (GLA). ... | [
"<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 Subnormal leukocyte α-galactosidase (α-Gal) activity\n <span style=\"font-size: 0.8em; font-weight: bold; ... | [
"ischaemic small-vessel cerebrovascular disease"
] | [
"molecular abnormality",
"g.1170C>T single-nucleotide polymorphism (SNP) in the 5' untranslated region of exon 1 in the α-Gal gene (GLA)",
"g.1170T allele",
"g.1170T allele",
"dosage effect of the g.1170T allele",
"hemizygous or homozygous controls for the g.1170C allele",
"g.1170C>T SNP may be co-domin... | [
"cryptogenic cerebrovascular small-vessel disease"
] | null | [
"Portuguese"
] | [
"Subnormal leukocyte α-galactosidase (α-Gal) activity",
"lower α-Gal expression",
"relative expression of α-Gal in both the patient and his sister was significantly lower than",
"β-actin immunoblot expression",
"recombinant human α-Gal"
] | [
"plasma enzyme activities were within the normal range in all five relatives"
] |
fabry:18954370 | Anderson-Fabry disease: a case-finding study among male kidney transplant recipients in Austria. | [
"The diagnosis of Anderson-Fabry disease is often delayed or even missed. As severe renal manifestations are a hallmark of alfa-galactosidase A (AGAL) deficiency, we tested the hypothesis that Anderson-Fabry disease is under-recognized among male kidney transplant recipients. This nation-wide study in Austria enrol... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The diagnosis of \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: ... | [
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease",
"Anderson-Fabry disease"
] | null | [
"severe renal manifestations"
] | [
"kidney transplant recipients",
"kidney transplanted",
"kidney transplantation",
"kidney transplant"
] | [
"Austria"
] | [
"alfa-galactosidase A (AGAL) deficiency",
"AGAL activity was determined from filter paper dried blood spots by a fluorescence assay",
"AGAL activity below 1.5 nmol/h/ml",
"AGAL activity was re-examined in peripheral blood leukocytes"
] | null |
fabry:18937048 | Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage. | [
"Fabry disease is an X-linked glycosphingolipidosis caused by a deficiency of α-galactosidase A, a lysosomal enzyme. Symptoms in hemizygous males and heterozygous females are due to lysosomal storage of globotriaosylceramide in the central and peripheral nervous system, vascular endothelium, cardiac valves and myoc... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"glycosphingolipidosis",
"Fabry disease",
"Fabry disease",
"stabilizing pulmonary Fabry disease",
"Fabry disease"
] | [
"X-linked",
"hemizygous males",
"heterozygous",
"G43R α-galactosidase A mutation"
] | [
"Pulmonary involvement",
"dry, nonproductive cough",
"mixed restrictive/obstructive pattern",
"impaired gas exchange",
"Patchy ground-glass pulmonary interstitial infiltrates",
"dry cough",
"pulmonary involvement",
"progressive worsening of her total lung capacity"
] | [
"Enzyme replacement therapy (ERT) with agalsidase-beta",
"ERT",
"ERT"
] | null | [
"deficiency of α-galactosidase A, a lysosomal enzyme"
] | [
"normal spirometry testing 2.5 years",
"despite treatment with antibiotics and bronchodilators",
"markers of obstructive lung disease have remained stable in the past 4 years",
"cannot reverse the ongoing process of fibrosis"
] |
fabry:18925518 | Fabry disease in hemodialysis patients in southern Brazil: prevalence study and clinical report. | [
"Fabry disease (FD) is a lysosomal storage disorder caused by a deficiency of alpha-Galactosidase A (alpha-Gal A). Fabry nephropathy typically progresses throughout the fifth decade to end-stage renal disease (ESRD), requiring hemodialysis and/or kidney transplantation.",
"To estimate the prevalence of FD among E... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"Fabry nephropathy",
"end-stage renal disease (ESRD)",
"FD",
"ESRD",
"Fabry disease",
"Fabry disease"
] | null | [
"left ventricular hypertrophy",
"renal manifestations of Fabry disease",
"angiokeratomas",
"acroparesthesias",
"hypohidrosis",
"ocular opacities"
] | [
"hemodialysis",
"and/or kidney transplantation",
"hemodialysis treatment",
"hemodialysis",
"hemodialysis"
] | [
"Rio Grande do Sul",
"Brazil"
] | [
"deficiency of alpha-Galactosidase A (alpha-Gal A)",
"normal reference value: >1.5 nmoles/hour/mL)",
"plasma alpha-Gal A activity assay (reference value: >3.3 nmoles/hour/mL)",
"low alpha-Gal A activity"
] | [
"without the classic symptoms"
] |
fabry:18830871 | Angiokeratomas of Fabry successfully treated with intense pulsed light. | [
"Fabry disease (FD) is a rare X-linked lysosomal storage disorder resulting from the deficient activity of the enzyme alpha-galactosidase A. Angiokeratomas (AKs) are a frequent manifestation of this disease. They usually become apparent during childhood and can cause important cosmetic disability. Current treatment... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"lysosomal storage disorder",
"FD",
"FD",
"FD",
"Fabry's AKs"
] | [
"rare X-linked",
"GLA p.R118C)"
] | [
"Angiokeratomas (AKs)",
"cosmetic disability",
"multiple AKs scattered over the buttocks and thighs",
"almost complete clearance of the lesions",
"cutaneous lesions"
] | [
"laser systems",
"argon laser, the variable pulse width 532-nm Nd:YAG laser",
"578-nm copper vapor laser",
"flashlamp-pumped pulsed dye laser",
"10 sessions of intense pulsed light (IPL), with a 4-8-week interval between them",
"IPL source",
"IPL"
] | [
"Caucasian"
] | null | [
"no scars or significant complaints",
"No recurrence",
"no need for local anesthesia"
] |
fabry:18784903 | Subfoveal choroidal neovascularization in a patient with Fabry's disease. | [
"Fabry disease (FD) is an X-linked, inherited disorder caused by a deficiency of the enzyme alpha-galactosidase A, with progressive accumulation of glycosphingolipids within several tissues and organs, including the eye. Ophthalmological manifestations include conjunctival vessel tortuosity, cornea verticillata, le... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"FD"
] | [
"X-linked, inherited disorder"
] | [
"Ophthalmological manifestations",
"conjunctival vessel tortuosity",
"cornea verticillata",
"lens opacity",
"retinochoroidal vessel abnormalities",
"macular choroidal neovascularization (CNV)",
"early-onset CNV"
] | null | null | [
"deficiency of the enzyme alpha-galactosidase A"
] | null |
fabry:18762974 | Splenomegaly, hypersplenism and peripheral blood cytopaenias in patients with classical Anderson-Fabry disease. | [
"A 39-year-old male with classical Anderson-Fabry disease (AFD) and long-standing idiopathic splenomegaly, who had been on haemodialysis since the age of 24, was splenectomised for symptomatic pancytopaenia. Spleen enlargement was first noted at clinical presentation, at age 16, but despite thorough investigation i... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 39-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"classical Anderson-Fabry disease (AFD)",
"classical AFD",
"AFD",
"classical AFD"
] | null | [
"long-standing idiopathic splenomegaly",
"Spleen enlargement",
"spleen weighed 700 g and had a fibrocongestive appearance",
"spleen was also enlarged",
"compromise of splenic blood flow",
"congestive splenomegaly"
] | [
"on haemodialysis since the age of 24",
"splenectomised",
"dialytic treatment"
] | null | [
"pancytopaenia",
"Anaemia",
"leukopaenia",
"thrombocytopaenia",
"anaemia",
"leukopaenia",
"thrombocytopaenia",
"peripheral blood cytopaenias",
"anaemia",
"hypersplenism"
] | null |
fabry:18724168 | Absence of cornea verticillata in hemizygotes of a novel mutation in fabry disease. | [
"To report a new pedigree of Fabry disease that does not display corneal involvement in hemizygotes.",
"A 44-year-old man presented with proteinuria, chronic obstructive airway disease, hypoacusia, teleangiectasis, and hypohidrosis. A kidney biopsy, genetic study, and ophthalmological examination were conducted. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">To report a new pedigree 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... | [
"Fabry disease",
"chronic obstructive airway disease",
"Fabry disease"
] | [
"In exon 2, an adenine was changed to a guanine at codon 92",
"mutation is called D92G or Asp92Gly",
"new mutation in",
"hemizygote",
"heterozygotes"
] | [
"hypoacusia",
"teleangiectasis",
"hypohidrosis",
"cardiac involvement",
"systemic disease",
"corneal deposits"
] | [
"enzyme replacement therapy using recombinant alpha-galactosidase A."
] | null | [
"proteinuria"
] | [
"does not display corneal involvement in hemizygotes",
"Cornea verticillata",
"did not show corneal manifestations"
] |
fabry:18641514 | Creating genetics-based infusion centers: a case study of two models. | [
"In 1993, the first effective enzyme replacement therapy for a genetic disease, Ceredase (Genzyme Corporation, Cambridge, MA), was approved for use in patients with Gaucher disease. Over the next 13 years, enzyme replacement therapy became clinically available for the treatment of Fabry disease, mucopolysaccharidos... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">In 1993, the first \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n effective enzyme replacement therapy for a genetic disease\n <span style=\"font-size: 0... | [
"Gaucher disease",
"Fabry disease",
"mucopolysaccharidosis Type I",
"mucopolysaccharidosis Type II",
"mucopolysaccharidosis Type VI",
"glycogen storage disease Type II",
"lysosomal storage diseases",
"lysosomal storage diseases",
"Lysosomal Storage Disease Center for Genetic Infusions"
] | null | null | [
"effective enzyme replacement therapy for a genetic disease",
"Ceredase (",
"enzyme replacement therapy",
"enzyme replacement therapy",
"weekly or biweekly intravenous enzyme replacement therapy",
"comprehensive care involving therapeutic intervention",
"outpatient genetics-based infusion centers",
"N... | null | null | null |
fabry:18632784 | A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble? | [
"We present the case of a 36-year-old woman affected with Fabry disease (FD), with neuroradiologic and laboratory tests suggestive of a coexistent inflammatory demyelinating disease. Since the age of 23, she presented recurrent neurologic deficits, such as right limb paresthesias, diplopia, and right leg weakness. ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">We present the case of a \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 36-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; ... | [
"Fabry disease (FD)",
"coexistent inflammatory demyelinating disease",
"FD",
"multiple sclerosis",
"coexistence of the two diseases"
] | null | [
"recurrent neurologic deficits",
"right limb paresthesias",
"diplopia",
"right leg weakness",
"multiple demyelinating lesions in periventricular areas, corpus callosum, and spinal cord",
"visual-evoked potentials were delayed with preserved morphology"
] | null | null | [
"presence of oligoclonal bands"
] | null |
fabry:18596132 | Two-tier approach for the detection of alpha-galactosidase A deficiency in kidney transplant recipients. | [
"Anderson-Fabry disease (AFD) is an X-linked condition originating from a deficiency in alpha-galactosidase, a lysosomal enzyme. Multi-organ involvement ensues in early adulthood and vital organs are affected: the kidneys, brain, heart. Several reports however suggest that AFD is underdiagnosed.",
"We screened a ... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Anderson-Fabry disease (AFD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-r... | [
"Anderson-Fabry disease (AFD)",
"AFD",
"AFD",
"AFD"
] | [
"X-linked",
"pathogenic missense mutation p.Ala143Thr (c.427A>G)"
] | [
"Multi-organ involvement",
"vital organs are affected: the kidneys, brain, heart"
] | [
"kidney transplant",
"kidney transplant"
] | null | [
"deficiency in alpha-galactosidase, a lysosomal enzyme",
"lowest alpha-galactosidase levels",
"mean AGALA of 2.63 +/- 2.48 micromol/L/h (2.5 and 97.5 percentile were 0.0001 and 5.07 micromol/L/h, respectively)"
] | null |
fabry:19893666 | Fabry's disease: An ultrastructural study of nerve biopsy. | [
"Fabry's disease, an X linked recessive disorder caused by the deficiency of alpha-galactosidase A (alpha-gal A), leads to progressive accumulation of glycosphingolipids. We report this rare disease in a 19-year-old boy who presented with angiokeratomas, paresthesia and corneal opacities, and nerve biopsy revealed ... | [
"<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 disorder"
] | [
"angiokeratomas",
"paresthesia",
"corneal opacities"
] | null | null | [
"deficiency of alpha-galactosidase A (alpha-gal A)"
] | null |
fabry:18563042 | [Corneal findings in Fabry disease-related keratopathy using in vivo confocal microscopy]. | [
"Description of corneal findings in Fabry disease-related keratopathy using in vivo confocal microscopy.",
"A 65-year-old man presenting with a cerebral ischemic lesion was referred to our clinic for ophthalmologic evaluation with a suspicion of inaugural Fabry disease. Slit lamp biomicroscopy showed whorl-like l... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">Description of corneal findings in \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease-related keratopathy\n <span style=\"font-size: 0.8em; fon... | [
"Fabry disease-related keratopathy",
"inaugural Fabry disease",
"Fabry disease",
"Fabry disease-related keratopathy"
] | null | [
"cerebral ischemic lesion",
"whorl-like lines in the inferior cornea of both eyes"
] | [
"enzyme replacement therapy"
] | null | null | null |
fabry:18538121 | Preservation of renal function in a patient with Fabry nephropathy on enzyme replacement therapy. | [
"Fabry disease is an X-linked recessive inborn error of glycosphingolipid metabolism caused by the deficient activity of the lysosomal enzyme, alpha-galactosidase A. Enzyme replacement therapy (ERT) for this disorder has been available in Europe since 2001. However, its effect on advanced renal failure remains cont... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"inborn error of glycosphingolipid metabolism"
] | [
"X-linked recessive"
] | [
"advanced renal failure",
"moderately impaired renal function",
"renal function"
] | [
"Enzyme replacement therapy (ERT)",
"administration of ERT (agalsidase-alpha)",
"doubling the dose of the enzyme",
"of ERT (0.2 mg/kg) to 2 ml/min/year (0.4 mg/kg)",
"high doses of ERT",
"ERT"
] | null | [
"decline in renal function",
"deterioration of eGFR went from 6.3 ml/min/",
"proteinuria"
] | null |
fabry:18522550 | Combined heart and kidney transplantation in a patient with Fabry disease in the enzyme replacement therapy era. | [
"Fabry disease (FD) is an X-linked genetic disease, resulting from the deficiency of alpha-galactosidase A, a lysosomal enzyme responsible for the cleavage of glycosphingolipids. In absence of enzyme replacement therapy (ERT), globotriaosylceramide (Gb3) accumulates in tissue, leading to progressive organ damage wi... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"FD",
"end-stage renal disease",
"Fabry",
"end-stage renal disease"
] | [
"X-linked genetic disease"
] | [
"progressive organ damage",
"severe renal, cardiac and central nervous system complications",
"severe heart failure",
"overt hypertrophic cardiomyopathy",
"severe ischemic or valvular heart disease"
] | [
"successful combined and simultaneous heart and kidney transplantation",
"Combined heart and kidney transplantation"
] | null | [
"deficiency of alpha-galactosidase A, a lysosomal enzyme",
"cleavage of glycosphingolipids"
] | [
"absence of enzyme replacement therapy (ERT)",
"not responding to late-onset ERT"
] |
fabry:18507557 | Short PR interval in the absence of preexcitation: a characteristic finding in a patient with Fabry disease. | [
"Fabry disease (FD) is a rare lysosomal storage disease characterized by intracellular deposition of glycosphingolipids that can involve various organs including the heart. Here, we report the finding of a short PR interval in a patient with FD and recurrent syncope associated with short atrial-His (A-H) and His-ve... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.3... | [
"Fabry disease (FD)",
"rare lysosomal storage disease",
"FD",
"FD"
] | null | [
"various organs including the heart",
"short PR interval",
"recurrent syncope",
"short atrial-His (A-H) and His-ventricular (H-V) intervals",
"electrocardiographic abnormalities",
"short A-H and H-V intervals",
"accelerated conduction in the AV node-His-Purkinje system"
] | null | null | null | [
"absence of preexcitation"
] |
fabry:18492655 | Nomen est omen. Fabry disease. | [
"A 47-year-old woman was referred with increasing dyspnoea and neuropathic pain. During echocardiography, she showed the typical signs for a Fabry cardiomyopathy: global left ventricular function was normal with an ejection fraction of 65%. She had a concentric left ventricular hypertrophy with very prominent papil... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n 47-year-old\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry cardiomyopathy",
"Fabry",
"genetically proven Fabry disease",
"Mrs Fabry",
"Fabry disease",
"Fabry cardiomyopathy"
] | null | [
"increasing dyspnoea",
"neuropathic pain",
"concentric left ventricular hypertrophy with very prominent papillary muscles",
"regional late enhancement in the postero-lateral wall",
"of fibrosis"
] | null | null | null | [
"global left ventricular function was normal",
"ejection fraction of 65%"
] |
fabry:18490300 | Fabry's disease presenting as ventricular tachycardia and left ventricular 'hypertrophy'. | [
"Fabry's disease (FD) is a genetic disorder leading to deficiency of alpha-galactosidase A. Enzymatic replacement therapy has recently become available. Patients with classical FD develop multi-system involvement; however, there is an increasingly recognized cardiac variant that presents as unexplained left ventric... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease (FD)\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0... | [
"Fabry's disease (FD)",
"classical FD",
"Fabry's disease"
] | [
"genetic disorder"
] | [
"multi-system involvement",
"unexplained left ventricular hypertrophy",
"ventricular tachycardia"
] | [
"Enzymatic replacement therapy"
] | null | null | null |
fabry:18410273 | An autopsy case of Fabry disease with neuropathological investigation of the pathogenesis of associated dementia. | [
"The pathogenesis of dementia associated with Fabry disease was examined neuropathologically in an autopsy case. The patient was a 47-year-old computer programmer who developed renal failure at the age of 36, necessitating peritoneal dialysis, and thereafter suffered in succession episodic pulmonary congestion, bra... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">The pathogenesis 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 dementia associated with Fabry disease\n <span style=\"font-size: 0.8em; font-weight: ... | [
"dementia associated with Fabry disease",
"leuko-araiosis",
"axonopathic leukoencephalopathy",
"dementia",
"Fabry disease"
] | null | [
"renal failure",
"episodic pulmonary congestion",
"bradyacusia",
"heart failure",
"dementia",
"acute myocardial infarction",
"widespread segmental hydropic swelling of axons in the bilateral cerebral and cerebellar deep white matter",
"multiple tiny lacunae",
"Hydropic axonal swelling was also spars... | [
"computer programmer",
"peritoneal dialysis"
] | null | null | [
"wallerian degeneration of these tracts was absent"
] |
fabry:18401198 | Hyperbaric oxygen treatment restores sudden hearing loss in a patient with Fabry disease. | [
"Fabry disease is an X-linked inherited disorder of glycosphingolipid metabolism due to the deficient activity of a lysosomal enzyme, alpha-galactosidase A. The resultant systemic accumulation of sphingolipids can lead to progressive and sudden hearing loss alongside renal, cardiac and cerebrovascular complications... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; ... | [
"Fabry disease",
"disorder of glycosphingolipid metabolism"
] | [
"X-linked inherited"
] | [
"progressive and sudden hearing loss",
"renal, cardiac and cerebrovascular complications",
"cochlear function",
"sudden hearing loss",
"unilateral sudden hearing loss"
] | [
"replacement therapy",
"hyperbaric oxygen treatment"
] | null | null | null |
fabry:18386622 | Fabry's disease. | [
"Fabry's disease is a rare X-linked, recessive, glycolipid storage disorder. It is caused by the deficient activity of a lysosomal enzyme, alpha-galactosidase A. Deficiency of alpha-GAL causes an inability to catabolize the lipids with cellular accumulation of its most abundant substrate, globotriaosylceramide (GL-... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Fabry's disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em... | [
"Fabry's disease",
"glycolipid storage disorder",
"Heterozygous Fabry's disease"
] | [
"rare X-linked, recessive"
] | [
"life-threatening clinical sequelae in renal, cardiac and cerebrovascular systems",
"cardiac (hypertrophic cardiomyopathy)",
"neurological (sensitive-motive polyneuropathy), digestive (chronic diarrheea), renal and cutaneous involvements"
] | null | null | [
"Deficiency of alpha-GAL",
"inability to catabolize the lipids"
] | null |
fabry:18383742 | [Classical type of Fabry disease without angiokeratomas--a case report]. | [
"A patient with classical type of Fabry disease is described. The appearance and character of neuropathic pain during hemodyalisis is described. Characteristic changes in head shape and changes of hands and fingers are the additional phenotypic characteristics of Fabry disease. Enzyme replacement therapy administer... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">A patient with \n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n classical type of Fabry disease\n <span style=\"font-size: 0.8em; font-weight: bold; line-h... | [
"classical type of Fabry disease",
"Fabry disease"
] | null | [
"neuropathic pain during hemodyalisis",
"Characteristic changes in head shape and changes of hands and fingers",
"disease complications",
"death"
] | [
"Enzyme replacement therapy"
] | null | null | null |
fabry:18224310 | Fabry disease and treatment with agalsidase alpha: unsuspected cardiac arrhythmia in two heterozygous women. In reference to pharmacovigilance. | [
"Two women treated with agalsidase alpha for Fabry disease developed severe heart dysfunctions a few months after the beginning of enzyme replacement therapy (ERT). An adverse effect caused by the treatment was suspected; therefore we informed the French pharmacovigilance authorities about these two events.",
"Co... | [
"<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 women\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; border-radius: 0.35em; vert... | [
"Fabry disease",
"orphan diseases"
] | null | [
"severe heart dysfunctions",
"adverse effect caused by the treatment",
"adverse effects"
] | [
"treated with agalsidase alpha",
"enzyme replacement therapy (ERT)"
] | null | null | null |
fabry:18061792 | Coronary artery bypass grafting for Fabry's disease: veins more suitable than arteries? | [
"Coronary artery bypass grafting was performed in a 54-year-old man affected by untreated Fabry's disease. Left internal mammary artery (LIMA) and saphenous vein grafts were implanted. Surgical samples of LIMA revealed diffuse glycosphyngolipid infiltration of smooth muscle cells, whereas SV was normal. After surge... | [
"<div class=\"entities\" style=\"line-height: 2.5; direction: ltr\">\n<mark class=\"entity\" style=\"background: #ddd; padding: 0.45em 0.6em; margin: 0 0.25em; line-height: 1; border-radius: 0.35em;\">\n Coronary artery bypass grafting\n <span style=\"font-size: 0.8em; font-weight: bold; line-height: 1; borde... | [
"untreated Fabry's disease",
"Fabry's disease"
] | null | [
"LIMA graft occluded",
"low pressure load"
] | [
"Coronary artery bypass grafting",
"Left internal mammary artery (LIMA) and saphenous vein grafts were implanted",
"surgery",
"received antithrombotic and enzyme replacement therapy",
"preventive histology of conduits",
"graft selection"
] | null | null | [
"SV was normal",
"saphenous vein graft remained patent"
] |
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