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Article

A novel GBE1 gene variant in a child with glycogen storage disease type IV.

Human pathology - 1 Aug 2016

Said Samar M, Murphree Marine I, Mounajjed Taofic, El-Youssef Mounif, Zhang Lizhi

Abstract excerpt

Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who...

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Source

Identifiers

PMID: 27107456
DOI: 10.1016/j.humpath.2016.03.021

Genes

GBE1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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