Article
[Fabry disease in 2004].
La Revue du praticien - 31 Dec 2003
Germain Dominique-Paul
Abstract excerpt
Fabry disease is a hereditary metabolic disease, with an X-linked transmission, that is due to the deficit of alpha-galactosidase A, a lysosomal enzyme. The enzyme deficiency is responsible for an accumulation of neutral glycosphingolipids in the organism with a consequent disease of overload that is responsible for pain, dermatological, renal, cardiac, gastro-intestinal, cochlear and neurological manifestations....
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