First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III
Copyright policy )First Trimester Diagnosis of Glycogen Storage Disease Type II and Type III
Prenatal diagnosis of glycogen storage disease (GSD) type II and type III (McKusick 23230 and 23240) has been performed by enzyme assay in cultivated amniotic fluid cells. We have also performed prenatal diagnosis by amniocentesis in about 30 at risk pregnancies for glycogen storage diseases. Recently, we have reported a case of first-trimester diagnosis of GSD type II using uncultured chorionic villous sampling (Grubisic et al., 1986). In this report, we describe further cases of first-trimester diagnosis of GSD type II in 8 pregnancies using chorionic villi, as well as one case of GSD type III.
- University Hospital Würzburg Germany
- Universitäts-Kinderklinik Würzburg Germany
- Ludwig-Maximilians-Universität München Germany
- Lake Forest College United States
Glycogen Storage Disease Type II, Placenta, Glycogen Storage Disease, Glycogen Storage Disease Type III, Pregnancy Trimester, First, Chorionic Villi Sampling, Liver, Pregnancy, Reference Values, Prenatal Diagnosis, Humans, Female
Glycogen Storage Disease Type II, Placenta, Glycogen Storage Disease, Glycogen Storage Disease Type III, Pregnancy Trimester, First, Chorionic Villi Sampling, Liver, Pregnancy, Reference Values, Prenatal Diagnosis, Humans, Female
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