Prenatal diagnosis of Hunter syndrome using fetal plasma.
作者信息
Lissens W, Van Lierde M, Decaluwe J, Foulon W, Evrard P, Van Hoof F, Freund M, Liebaers I
机构信息
Department of Medical Genetics, Vrije Universiteit Brussel, Belgium.
出版信息
Prenat Diagn. 1988 Jan;8(1):59-62. doi: 10.1002/pd.1970080108.
PMID:3125535
Abstract
The X-linked Hunter syndrome or mucopolysaccharidosis II was diagnosed in a male fetus by demonstrating a severe deficiency of iduronate 2-sulphate sulphatase activity in fetal plasma obtained by umbilical fetal blood sampling at 23 weeks of pregnancy. The diagnosis was confirmed after termination of pregnancy.
摘要
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Prenatal diagnosis of Hunter syndrome using fetal plasma.
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