Case Reports
doi: 10.1002/pd.1970080108.
Prenatal diagnosis of Hunter syndrome using fetal plasma
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- PMID: 3125535
- DOI: 10.1002/pd.1970080108
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Case Reports
Prenatal diagnosis of Hunter syndrome using fetal plasma
Prenat Diagn.
1988 Jan.
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.
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