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 contr...
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