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Article

Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.

Journal of inherited metabolic disease - 1 Sept 2017

Peeks Fabian, Steunenberg Thomas A H, de Boer Foekje, Rubio-Gozalbo M Estela, Williams Monique, Burghard Rob, Rajas Fabienne, Oosterveer Maaike H, Weinstein David A, Derks Terry G J

Abstract excerpt

OBJECTIVE: To study heterogeneity between patients with glycogen storage disease type Ia (GSD Ia), a rare inherited disorder of carbohydrate metabolism caused by the deficiency of glucose-6-phosphatase (G6Pase). STUDY DESIGN: Descriptive retrospective study of longitudinal clinical and biochemical data and long-term complications in 20 GSD Ia patients. We included 11 patients with homozygous G6PC mutations and...

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Identifiers

PMID: 28397058
DOI: 10.1007/s10545-017-0039-1
PMCID: PMC5579135

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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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