Associated Papers
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Molecular and clinical profiling in a large cohort of Asian Indians with glycogen storage disorders.
Kumar TV et al.
Plos One, 2022
Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.
Kim YM et al.
Orphanet Journal of Rare Diseases, 2020
Misdiagnosis as steatohepatitis in a family with mild glycogen storage disease type 1a.
Shieh JJ et al.
Gene, 2012
[Clinical and molecular genetic analysis for a patient with glycogen storage disease Ⅰa].
Wang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
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
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
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
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
Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.
Parvari R et al.
American Journal of Medical Genetics, 1997
Molecular prenatal diagnosis of glycogen storage disease type Ia.
Qu Y et al.
Prenatal Diagnosis, 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
Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.
Lei KJ et al.
The Journal of Biological Chemistry, 1995
Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.
Lei KJ et al.
The Journal of Clinical Investigation, 1995
[Case of a combination of enzyme-deficient forms of methemoglobinemia with enzyme-deficient hemolytic disease and reduced oxygenation of hemoglobin].
Gembitskiĭ EV et al.
Problemy Gematologii I Perelivaniia Krovi, 1975
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