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Article

Mutation spectrum of type I glycogen storage disease in Hungary.

Journal of inherited metabolic disease - 1 Jan 2005

Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke A R

Abstract excerpt

We performed mutation analysis in 12 Hungarian type I glycogen storage disease (GSD I) patients in order to determine the mutation spectrum. All patients were clinically classified as GSD Ia. Nine patients carried biallelic G6PC mutations (p.Q27fsX35, p.D38V, p.W70X, p.K76N, p.W77R, p.R83C, p.E110Q, p.G222R), with E110Q reported only in Hungary. However, three patients displayed two common G6PT1 (SLC37A4)...

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Identifiers

PMID: 16435186
DOI: 10.1007/s10545-005-0186-7

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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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