Article
Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey.
European journal of clinical investigation - 1 Mar 2004
Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M
Abstract excerpt
BACKGROUND: Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation of the substrate globotriaosylceramide in cells throughout the body leads to major organ failure and premature death. In response to the recen...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.