Associated Papers
Structural insights into glucose-6-phosphate recognition and hydrolysis by human G6PC1.
Xia Z et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.
Shieh JJ et al.
Gene, 2012
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G et al.
Journal of Inherited Metabolic Disease, 2005
Glycogen storage disease type I: diagnosis and phenotype/genotype correlation.
Matern D et al.
European Journal of Pediatrics, 2002
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
Molecular Genetics of Type 1 Glycogen Storage Diseases.
Yang Chou J et al.
Trends in Endocrinology and Metabolism: Tem, 1999
Enzymatic characterization of four new mutations in the glucose-6 phosphatase (G6PC) gene which cause glycogen storage disease type 1a.
Bruni N et al.
Annals of Human Genetics, 1999
Asparagine-linked oligosaccharides are localized to a luminal hydrophilic loop in human glucose-6-phosphatase.
Pan CJ et al.
The Journal of Biological Chemistry, 1998
Two new mutations in the glucose-6-phosphatase gene cause glycogen storage disease in Hungarian patients.
Parvari R et al.
European Journal of Human Genetics : Ejhg, 0
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