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Article

A novel mutation (G233D) in the glycogen phosphorylase gene in a patient with hepatic glycogen storage disease and residual enzyme activity.

Molecular genetics and metabolism - 1 Jun 2003

Tang Nelson L S, Hui Joannie, Young Elisabeth, Worthington Viki, To Ka-Fai, Cheung Kam-Lau, Li Chi-Kong, Fok Tai-Fai

Abstract excerpt

We identified a novel mutation in the glycogen phosphorylase gene (PGYL) in a Chinese patient with glycogen storage disease (GSD) type VI. The patient presented with gross hepatomegaly since the age of two without history of any hypoglycemic attack. Otherwise, he was largely asymptomatic. Liver t...

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PMID: 12809646
DOI: 10.1016/s1096-7192(03)00068-4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12809646-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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