Prenatal diagnosis of Hunter syndrome using fetal plasma
- PMID: 3125535
- DOI: 10.1002/pd.1970080108
Prenatal diagnosis of Hunter syndrome using fetal plasma
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.
Publication types
MeSH terms
Substances
Grants and funding
LinkOut - more resources
Full Text Sources
Medical
