Article
Detection of Hunter syndrome (mucopolysaccharidosis type II) in Taiwanese: biochemical and linkage studies of the iduronate-2-sulfatase gene defects in MPS II patients and carriers.
Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2006
Lin Shuan-Pei, Chang Jui-Hung, Lee-Chen Guey-Jen, Lin Dar-Shong, Lin Hsiang-Yu, Chuang Chih-Kuang
Abstract excerpt
BACKGROUND: Hunter syndrome (mucopolysaccharidosis type II) is an X-linked recessive lysosomal storage disease caused by a defect of the iduronate-2-sulfatase (IDS) gene. The result is impaired IDS enzyme function. METHODS: To characterize the biochemical and molecular defects in IDS-deficient patients and their families, we measured IDS enzyme activity by fluorimetric enzyme assay and identified the IDS gene...
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