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Article

Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.

Clinica chimica acta; international journal of clinical chemistry - 15 Jan 2015

Okubo Minoru, Ucar Sema Kalkan, Podskarbi Teodor, Murase Toshio, Shin Yoon S, Coker Mahmut

Abstract excerpt

BACKGROUND: Glycogen storage disease type III (GSD III; MIM #232400) is an autosomal recessive inherited disorder characterized by fasting hypoglycemia, growth retardation, hepatomegaly, progressive myopathy, and cardiomyopathy. GSD III is caused by deficiency in the glycogen debranching enzyme (gene symbol: AGL). Molecular analyses of AGL have indicated heterogeneity depending on ethnic groups. In Turkey we...

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PMID: 25451950
DOI: 10.1016/j.cca.2014.10.016

Genes

AGL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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