Associated Papers
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
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
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1996
Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.
Lei KJ et al.
American Journal of Human Genetics, 1995
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