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Article

Null mutations and lethal congenital form of glycogen storage disease type IV.

Biochemical and biophysical research communications - 21 Sept 2007

Assereto Stefania, van Diggelen Otto P, Diogo Luisa, Morava Eva, Cassandrini Denise, Carreira Isabel, de Boode Willem-Pieter, Dilling Jildau, Garcia Paula, Henriques Margarida, Rebelo Olinda, ter Laak Henk, Minetti Carlo, Bruno Claudio

Abstract excerpt

Glycogen branching enzyme deficiency (glycogen storage disease type IV, GSD-IV) is a rare autosomal recessive disorder of the glycogen synthesis with high mortality. Two female newborns showed severe hypotonia at birth and both died of cardiorespiratory failure, at 4 and 12 weeks, respectively. In both patients, muscle biopsies showed deposits of PAS-positive diastase-resistant material and biochemical analysis...

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Source

Identifiers

PMID: 17662246
DOI: 10.1016/j.bbrc.2007.07.074

Genes

GBE1

Variants

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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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