Neurological Findings in Anderson-Fabry Disease
نویسندگان
چکیده
منابع مشابه
Anderson-Fabry disease: extrarenal, neurologic manifestations.
The advent of enzyme replacement therapy for AndersonFabry disease (AFD) adds impetus for the early detection of patients with this inherited multiorgan lipid storage disease. The resultant accumulation of neutral glycosphingolipids, especially globotriaosylceramide (Gb3), in various cell types promotes development of disease-related complications associated with renal, cardiovascular, and cere...
متن کاملEnzyme replacement therapy for Anderson-Fabry disease.
BACKGROUND Anderson-Fabry disease is an X-linked defect of glycosphingolipid metabolism. Progressive renal insufficiency is a major source of morbidity, additional complications result from cardio- and cerebro-vascular involvement. Survival is reduced among affected males and symptomatic female carriers. OBJECTIVES To evaluate the effectiveness and safety of enzyme replacement therapy compare...
متن کاملBasilar artery aneurysm and Anderson-Fabry disease.
A case of basilar artery aneurysm is described. The patient had a family history of similar aneurysms and also of a rare spingolipidosis, Anderson-Fabry disease.
متن کاملAnderson-Fabry disease: enzyme replacement therapy.
Sir, Anderson-Fabry disease is a metabolic lysosomal storage disease caused by a deficiency of the enzyme a-galactosidase A and inherited as an X-linked recessive trait. The progressive accumulation of glycosphingolipids (globotriaosylceramide, GB3) in blood, vessels and cells from several organs and tissues causes significant multi-systemic damage in homozygous males and in carrier females. Fo...
متن کاملBiomarkers and Imaging Findings of Anderson–Fabry Disease—What We Know Now
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder, caused by deficiency or absence of the alpha-galactosidase A activity, with a consequent glycosphingolipid accumulation. Biomarkers and imaging findings may be useful for diagnosis, identification of an organ involvement, therapy monitoring and prognosis. The aim of this article is to review the current available literature...
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ژورنال
عنوان ژورنال: Journal of Pediatric Biochemistry
سال: 2016
ISSN: 1879-5390,1879-5404
DOI: 10.1055/s-0036-1582223