Article
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase.
Molecular genetics and metabolism - 1 Jul 2016
Kosuga Motomichi, Mashima Ryuichi, Hirakiyama Asami, Fuji Naoko, Kumagai Tadayuki, Seo Joo-Hyun, Nikaido Mari, Saito Seiji, Ohno Kazuki, Sakuraba Hitoshi, Okuyama Torayuki
Abstract excerpt
Mucopolysaccharidosis type II (MPS II: also called as Hunter syndrome) is an X-linked recessive lysosomal storage disorder characterized by the accumulation of extracellular glycosaminoglycans due to the deficiency of the enzyme iduronate-2-sulfatase (IDS). Previous observations suggested that MPS II can be classified into two distinct disease subtypes: (1) severe type of MPS II involves a decline in the...
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