Associated Papers
The induced-fit and catalytic mechanisms of human G6PC1.
Chen Q et al.
Cell Discovery, 2025
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
Abdul Wahab SA et al.
Genetics Research, 2022
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry.
Du J et al.
Frontiers in Pediatrics, 2022
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
31508908 (PubMed )
Supplement: MGG3-7-e877-s001.xlsx › Plan1
Clinical and biochemical heterogeneity between patients with glycogen storage disease type IA: the added value of CUSUM for metabolic control.
Peeks F et al.
Journal of Inherited Metabolic Disease, 2017
Progressive development of renal cysts in glycogen storage disease type I.
Gjorgjieva M et al.
Human Molecular Genetics, 2016
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
Zheng BX et al.
European Journal of Pediatrics, 2015
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
The molecular basis of glycogen storage disease type 1a: structure and function analysis of mutations in glucose-6-phosphatase.
Shieh JJ et al.
The Journal of Biological Chemistry, 2002
Genetic heterogeneity of glycogen storage disease type Ia in France: a study of 48 patients.
Trioche P et al.
Human Mutation, 2000
Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.
Rake JP et al.
European Journal of Pediatrics, 2000
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
Trioche P et al.
Human Mutation, 1999
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