engleski

Role of endothelial function parameters in evaluation of patients with Fabry disease

Fabry disease (Anderson-Fabry disease) is an X- linked recessive lysosomal storage disorder resulting from the deficient activity of the lysosomal hydrolase, a -galactosidase A which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with clinical manifestations affecting major organs including the nervous system.

endothelial function parameters; Fabry disease; stroke; betta stiffness; intima-media thickness-IMT

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