Two cases of Fabry disease identified in brothers

Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were di...

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Bibliographic Details
Main Authors: Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
Format: Article
Language:English
Published: Korean Pediatric Society 2010-02-01
Series:Korean Journal of Pediatrics
Online Access:http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF