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Article

Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.

Human mutation - 1 Jan 1998

Shieh J J, Lin C Y

Abstract excerpt

Glycogen storage disease type II (GSD II, Pompe's disease), an autosomal recessive inherited disease, is caused by the deficiency of acid alpha-D-glucosidase, which results in the impaired glycogen degradation in lysosome and causes excess glycogen accumulation in lysosome. In Taiwan, the infantile form of GSD II is the most common type of glycogen storage diseases. The frequency of C1935A mutant allele is 0.8 in...

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Identifiers

PMID: 9554747
DOI: 10.1002/(SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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