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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 pregnancy of consanguineous parents of a child with GSD II. The delta T525 deletion was demonstrated in this family but...

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Identifiers

PMID: 7478785
DOI: 10.1203/00006450-199507000-00018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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