Title : Mucopolysaccharidosis Type II and the G374sp Mutation.

Pub. Date : 2013 Apr

PMID : 23801937






1 Functional Relationships(s)
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1 Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans resulting in accumulation of heparan and dermatan sulfate in many organs and tissues. Dermatan Sulfate iduronate 2-sulfatase Homo sapiens