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Article

Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.

European journal of human genetics : EJHG - 1 Jan 2000

Parvari R, Lei K J, Szonyi L, Narkis G, Moses S, Chou J Y

Abstract excerpt

Glycogen storage disease type 1a (von Gierke disease, GSD-1A) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity which catalyzes the final common step of glycogenolysis and gluconeogenesis. The cloning of the G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD-1a. This, in turn, allows the development of non-invasive...

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PMID: 9359038

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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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