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Article

Glycogen storage disease type Ia: molecular study in Brazilian patients.

Journal of human genetics - 1 Jan 2001

de C Reis F, Caldas H C, Norato D Y, Schwartz I V, Giugliani R, Burin M G, Sartorato E L

Abstract excerpt

Mutations in the glucose-6-phosphatase (G6Pase) gene are responsible for glycogen storage disease type Ia (GSDIa). This disease is characterized by growth retardation, hepatomegaly, hypoglycemia, hyperlipidemia, and lactic acidosis. In this study, we report mutations in the G6Pase gene in 8 of 25 Brazilian patients with clinical symptoms of GSDIa. Five previously described mutations (R83C, Q347X, V338F, D38V, and...

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PMID: 11310582
DOI: 10.1007/s100380170102

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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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