Article
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
Pediatric research - 1 Jul 1995
Kleijer W J, van der Kraan M, Kroos M A, Groener J E, van Diggelen O P, Reuser A J, van der Ploeg A T
Abstract excerpt
Two mutations in the lysosomal alpha-glucosidase gene, a single base pair deletion (delta T525) and a deletion of exon 18, have recently been identified with a relatively high incidence in Caucasian patients with glycogen storage disease type II (GSD II). Prenatal diagnosis was made in a pregnanc...
Topics
- Base Sequence
- Chorionic Villi
- Clinical Enzyme Tests
- DNA
- Female
- Glycogen Storage Disease Type II
- Heterozygote
- Humans
- Molecular Sequence Data
- Mutation
- Pedigree
- Pregnancy
- Prenatal Diagnosis
- alpha-Glucosidases