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Article

Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1.

The Journal of pediatrics - 1 Nov 2004

Janecke Andreas R, Dertinger Susanne, Ketelsen Uwe-Peter, Bereuter Lothar, Simma Burkhard, Müller Thomas, Vogel Wolfgang, Offner Felix A

Abstract excerpt

The fatal neonatal form of type IV glycogen storage disease (GSD IV) was diagnosed on light and electron microscopy and by analysis of GBE1 , the gene encoding glycogen branching enzyme. We report two novel truncating mutations, as well as the first genomic mutational analysis of GBE1 using denat...

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Source

Identifiers

PMID: 15520786
DOI: 10.1016/j.jpeds.2004.07.024

Genes

GBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15520786-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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