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Article

Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.

Nature reviews. Endocrinology - 1 Dec 2010

Chou Janice Y, Jun Hyun Sik, Mansfield Brian C

Abstract excerpt

Glycogen storage disease type I (GSD-I) consists of two subtypes: GSD-Ia, a deficiency in glucose-6-phosphatase-α (G6Pase-α) and GSD-Ib, which is characterized by an absence of a glucose-6-phosphate (G6P) transporter (G6PT). A third disorder, G6Pase-β deficiency, shares similarities with this group of diseases. G6Pase-α and G6Pase-β are G6P hydrolases in the membrane of the endoplasmic reticulum, which depend on...

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Identifiers

PMID: 20975743
DOI: 10.1038/nrendo.2010.189
PMCID: PMC4178929

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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