Article
[Neurological complications of Fabry-disease].
Ideggyogyaszati szemle - 30 Jan 2011
Vastagh Iidikó, Constantin Tamás, Kéri Anna, Rudas Gábor, Fekete György, Bereczki Dániel
Abstract excerpt
BACKGROUND: Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galactosidase A activity leads to the accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (GL-3) in various tissues, particularly blood vessels, kidneys, myocardium and in ganglions of the peripheral and autonomic nervous system and causes diverse symptoms. The classical phenotype is seen in...
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