Associated Papers
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
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
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
Mutations in the glucose-6-phosphatase gene of 53 Italian patients with glycogen storage disease type Ia.
Stroppiano M et al.
Journal of Inherited Metabolic Disease, 1999
A new mutation of the glucose-6-phosphatase gene in a 4-year-old girl with oligosymptomatic glycogen storage disease type 1a.
Keller KM et al.
The Journal of Pediatrics, 1998
Select a paper to view details