Prenatal diagnosis of Hunter syndrome using fetal plasma
- 1 January 1988
- journal article
- research article
- Published by Wiley in Prenatal Diagnosis
- Vol. 8 (1) , 59-62
- https://doi.org/10.1002/pd.1970080108
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.Keywords
This publication has 3 references indexed in Scilit:
- Prenatal diagnosis of mucopolysaccharidosis by two‐dimensional electrophoresis of amniotic fluid glycosaminoglycansPrenatal Diagnosis, 1982
- Iduronate sulfatase in amniotic fluid: An aid in the prenatal diagnosis of the Hunter syndromeThe Journal of Pediatrics, 1977
- Sequential thin layer chromatography of urinary acidic glycosaminglycansClinica Chimica Acta; International Journal of Clinical Chemistry, 1972