Fabry disease
Screening for Fabry disease in patients with left ventricular noncompaction
... no Fabry disease patient was diagnosed besides the sin- gle case already reported in the ...of Fabry disease if LVNC was a rare manifestation of this ...for Fabry disease also ...
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Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
... Fabry disease is a rare storage metabolic disea- se, linked to X chromosome, caused by deficiency of α- galactosidase A (α-Gal A) lysosomal hydrolase acti- vity, leading to the accumulation of two neutral ...
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Níveis de CD77 ao longo do tratamento de reposição enzimática em família com Doença de Fabry (V269M) CD77 levels over enzyme replacement treatment in Fabry Disease family (V269M)
... Introduction: Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A ...of Fabry carriers to- gether with the decrease in CD77 levels ...
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Níveis de CD77 ao longo do tratamento de reposição enzimática em Família com Doença de Fabry (V269M) CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M)
... Introduction: Fabry disease (FD) is a disorder caused by mutations in the gene encoding for lysosomal enzyme α-galactosidase A ...of Fabry carriers to- gether with the decrease in CD77 levels ...
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Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.
... Detailed analysis of the effect of long term ERT on plasma Gb3 or urinary Gb3 in relation to the presence agalsidase antibodies is lacking. Recently de-acylated Gb3 (globotriaosylsphingosine, or lysoGb3), was shown to be ...
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Receptor-mediated endocytosis of α-galactosidase A in human podocytes in Fabry disease.
... Fabry disease is an X-linked lysosomal disorder that results from mutations of the gene (GLA) that encodes a-galactosidase A (a-Gal A) ...in Fabry disease and impairment of renal function ...
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Evaluation of oxidative stress markers and cardiovascular risk factors in Fabry Disease patients
... Fabry Disease, an X-linked inborn error of metabolism, is characterized by progressive renal insufficiency, with cardio and cerebrovascular involvement. Homocysteine (Hcy) is considered a risk factor for ...
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Substrate reduction augments the efficacy of enzyme therapy in a mouse model of Fabry disease.
... Fabry disease is an X-linked glycosphingolipid storage disorder caused by a deficiency in the activity of the lysosomal hydrolase a-galactosidase A ...cerebrovascular disease. The current treatment ...
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Positron Emission Tomography and Magnetic Resonance Imaging of the Brain in Fabry Disease: A Nationwide, Long-Time, Prospective Follow-Up.
... that Fabry patients are at risk of severe and progressive white matter lesions (WMLs) at an early age in addition to cerebral infarcts and hemorrhages [5,6]—especially in the posterior cerebral circu- lation, ...
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Fabry disease - importance of screening in cornea verticillata: case report
... of Fabry disease, enzyme replacement therapy can be instituted, avoiding serious compli- cations and decreasing the morbidity and mortality associated with the ...
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Continuous cardiac troponin I release in Fabry disease.
... Fabry disease (FD) is a rare X-linked disorder affecting hemizygous males and heterozygous ...heart disease, conduction defects, or coronary artery disease ...the disease [3–5]. In FD, ...
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Genomic analysis of Brazilian patients with Fabry disease
... Fabry disease is an X-linked disorder with male patients usually presenting classi- cal symptoms although symptomatic females have also been described ...of Fabry disease can be easily made in ...
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Predictors of Fabry disease in patients with hypertrophic cardiomyopathy: how to guide the diagnostic strategy?
... cular disease may also be absent in heterozygous females and in some late-onset phenotypes with a predominant organ involvement, 1 which limits their utility in the etiological study of ...the disease that ...
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CD77 levels over enzyme replacement treatment in Fabry Disease Family (V269M) Níveis de CD77 ao longo do tratamento de reposição enzimática em Família com Doença de Fabry (V269M)
... of Fabry carriers together with its decrease throughout ERT suggest that measuring CD77 levels in pha- gocytes is a promising tool for monitoring the respon- se to ERT in ...
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CD77 levels over enzyme replacement treatment in Fabry Disease family (V269M) Níveis de CD77 ao longo do tratamento de reposição enzimática em família com Doença de Fabry (V269M)
... de Fabry (DF) é um distúrbio causado por mutações no gene que codifica a enzima lisossômica α-galactosidase A ...de Fabry, juntamente com a diminuição nos níveis de CD77 ao longo da TRE, sugerem que medir ...
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J. Bras. Nefrol. vol.38 número1
... in Fabry disease can be relevant in predicting renal disease during phases in which histological and functional reversibility might still be ...
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Podocitúria na doença de Fabry.
... Introduction: Fabry disease is a lysosomal storage disorder due to abnormalities in the GLA gene ...Renal disease is a major clinical outcome of the accumulation of ...in Fabry disease ...
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Córnea verticilata por doença de Fabry
... of Fabry disease. Our patient was probably heterozygote for Fabry disease because, up to the time of examination, she did not have any symptom of the disease expected the corneal ...
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Córnea verticilata - marcador clínico da doença de Fabry: relato de caso.
... 08. Nguyen TT, Gin T, Nicholls K, Low M, Galanos J, Crawford A. Ophthalmolo- gical manifestations of Fabry disease: a survey of patients at the Royal Melbourne Fabry Disease Treatment Centre. ...
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Arq. NeuroPsiquiatr. vol.64 número3B
... ABSTRACT - Purpose: To report the clinical and neuroimaging, central nervous system (CNS) findings of patients with Fabry disease (FD) during 24 months of enzyme replacement therapy (ERT) with agalsidase- ...
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