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Biochemical and molecular investigation of two Korean patients with glycogen storage disease type III.

Clinical chemistry and laboratory medicine - 1 Jan 2008

Oh Sue-Hyun, Park Hyung-Doo, Ki Chang-Seok, Choe Yon-Ho, Lee Soo-Youn

Abstract excerpt

BACKGROUND: Glycogen storage disease type III (GSD-III) is an inborn error of glycogen metabolism caused by a deficiency of the glycogen debranching enzyme, amylo-1,6-glucosidase,4-alpha-glucanotransferase (AGL). Here, we describe two unrelated Korean patients with GSD-III and review their clinical and laboratory findings. METHODS: The patients were 18- and 11-month-old girls. They presented with...

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Identifiers

PMID: 18785866
DOI: 10.1515/CCLM.2008.252

Genes

AGL

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

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