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Identification of a small deletion in one allele of patients with infantile form of glycogen storage disease type II.

Biochemical and biophysical research communications - 15 Feb 1996

Shieh J J, Lin C Y

Abstract excerpt

Glycogen storage disease type II (GSD II, Pompe's disease) is an autosomal recessive inherited disease caused by the deficiency of acid alpha-D-glucosidase. In this paper we report two unrelated Chinese patients with infantile form of GSD II who had compound heterozygotes containing a small deletion in one of the acid alpha-D-glucosidase alleles. In both of these compound heterozygotes, one allele contains the...

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Identifiers

PMID: 8604985
DOI: 10.1006/bbrc.1996.0231

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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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