Article
[Prenatal diagnosis of mucopolysaccharidosis type II].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2011
Zhang Xin-shun, Zhang Hui-wen, Gu Xue-fan
Abstract excerpt
OBJECTIVE: To establish a method of iduronate-2-sulfatase (IDS) activity assay and mutation analysis of IDS gene for the prenatal diagnosis of mucopolysaccharidosis type II (MPSII). METHODS: Prenatal diagnosis of two cases was performed using cultured fetal amniotic fluid cells. Enzyme activity of IDS in cultured fetal amniotic fluid cells extracted from the two pregnant women at high risk of MPS II was measured....
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