Article
Initial report from the Hunter Outcome Survey.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2008
Wraith J Edmond, Beck Michael, Giugliani Roberto, Clarke Joe, Martin Rick, Muenzer Joseph
Abstract excerpt
PURPOSE: Hunter syndrome (Mucopolysaccharidosis II) is a rare, X-linked disorder of glycosaminoglycan metabolism. It is caused by a deficiency in the lysosomal enzyme iduronate-2-sulfatase, and in affected patients glycosaminoglycan accumulates in lysosomes of various tissues and organs and contributes to the pathophysiology of Hunter syndrome. The Hunter Outcome Survey (HOS) was established to better describe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
