Article
Different phenotypic expression in relatives with fabry disease caused by a W226X mutation.
American journal of medical genetics - 19 Feb 1999
Knol I E, Ausems M G, Lindhout D, van Diggelen O P, Verwey H, Davies J, Ploos van Amstel J K, Poll-The B T
Abstract excerpt
Two male relatives with Fabry disease presented striking differences in clinical symptoms and age of onset. The propositus had retarded statural growth and skeletal dysplasia while his nephew suffered mainly from aggravating acroparesthesia and celiac disease. Fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.