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Article

Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.

Molecular genetics and metabolism - 1 Jan 2000

Davit-Spraul Anne, Piraud Monique, Dobbelaere Dries, Valayannopoulos Vassili, Labrune Philippe, Habes Dalila, Bernard Olivier, Jacquemin Emmanuel, Baussan Christiane

Abstract excerpt

Glycogen storage disease (GSD) due to a deficient hepatic phosphorylase system defines a genetically heterogeneous group of disorders that mainly manifests in children. We investigated 45 unrelated children in whom a liver GSD VI or IX was suspected on the basis of clinical symptoms including hepatomegaly, increased serum transaminases, postprandial lactatemia and/or mild fasting hypoglycemia. Liver phosphorylase...

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Source

Identifiers

PMID: 21646031
DOI: 10.1016/j.ymgme.2011.05.010

Genes

PHKG2
PYGL

Variants

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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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