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Article

Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

Science (New York, N.Y.) - 22 Oct 1993

Lei K J, Shelly L L, Pan C J, Sidbury J B, Chou J Y

Abstract excerpt

Glycogen storage disease (GSD) type 1a is caused by the deficiency of D-glucose-6-phosphatase (G6Pase), the key enzyme in glucose homeostasis. Despite both a high incidence and morbidity, the molecular mechanisms underlying this deficiency have eluded characterization. In the present study, the molecular and biochemical characterization of the human G6Pase complementary DNA, its gene, and the expressed protein,...

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Identifiers

PMID: 8211187
DOI: 10.1126/science.8211187

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

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The molecular basis of type 1 glycogen storage diseases.Semantic proximity Read ↗

The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.Semantic proximity Read ↗

Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.Semantic proximity Read ↗

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