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Article

Glycogen Storage Disease Type VI With a Novel Mutation in PYGL Gene.

Indian pediatrics - 15 Sept 2017

Jagadisan Barath, Ranganath Prajnya

Abstract excerpt

BACKGROUND: Glycogen storage disease type VI (GSD-VI) presents with failure to thrive and also fibrosis in some cases, without cirrhosis. CASE CHARACTERISTICS: 2½-year-old girl presented with short stature, transaminase elevation and significant fibrosis, suggesting GSD-III. OBSERVATION: A pathogenic mutation in PYGL gene suggested GSD-VI. MESSAGE: GSD-VI should be a differential diagnosis whenever GSD-III is...

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Identifiers

PMID: 28984260
DOI: 10.1007/s13312-017-1174-3

Genes

PYGL

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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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