Article
Fabry disease--a metabolic disorder with a challenge for endocrinologists?
Hormone research - 1 Jan 2002
Feldt-Rasmussen U, Rasmussen A K, Mersebach H, Rosenberg K M, Hasholt L, Sorensen S A
Abstract excerpt
OBJECTIVE: To revisit Fabry disease, a rare X-linked metabolic glycosphingolipid storage disease caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A). METHOD: Summary of the existing knowledge of Fabry disease including the clinical feature of Fabry disease and the recent breakthrough in the treatment of Fabry patients with the development of recombinant human alpha-gal A....
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