Article
Genetic analysis of mucopolysaccharidosis type VI in Taiwanese patients.
Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2008
Lin Wei-De, Lin Shuan-Pei, Wang Chung-Hsing, Hwu Wuh-Liang, Chuang Chih-Kuang, Lin Shio-Jean, Tsai Yushin, Chen Chih-Ping, Tsai Fuu-Jen
Abstract excerpt
BACKGROUND: Mucopolysaccharidosis type VI (MPS VI; Maroteaux-Lamy syndrome) is an autosomal recessive lysosomal storage disease induced by a deficiency of the enzyme N-acetylgalactosamine-4-sulfatase (arylsulfatase B, ARSB). The deficiency of ARSB leads to an accumulation of dermatan sulfate (DS) in lysosomes and gross excretion in the urine. The prevalence of these mutations in Asian MPS VI patients has not yet...
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