Associated Papers
Clinical, laboratory and molecular features of glycogen storage disease type 1a and 1b patients from Turkey: novel mutations and phenotypes.
Akyüz A et al.
European Journal of Pediatrics, 2025
The induced-fit and catalytic mechanisms of human G6PC1.
Chen Q et al.
Cell Discovery, 2025
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 2024
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type Ia.
Haring MPD et al.
Jhep Reports : Innovation in Hepatology, 2022
The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Pinheiro FC et al.
Molecular Genetics and Metabolism Reports, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
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
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report.
Allegrini D et al.
Bmc Ophthalmology, 2017
Progressive development of renal cysts in glycogen storage disease type I.
Gjorgjieva M et al.
Human Molecular Genetics, 2016
Functional Analysis of Mouse G6pc1 Mutations Using a Novel In Situ Assay for Glucose-6-Phosphatase Activity and the Effect of Mutations in Conserved Human G6PC1/G6PC2 Amino Acids on G6PC2 Protein Expression.
Boortz KA et al.
Plos One, 2016
[Renal involvement in glycogen storage disease type 1: Practical issues].
Ben Chehida A et al.
Nephrologie & Therapeutique, 2015
Functional analysis of mutations in a severe congenital neutropenia syndrome caused by glucose-6-phosphatase-β deficiency.
Lin SR et al.
Molecular Genetics and Metabolism, 2015
Stereotactic radiofrequency ablation for liver tumors in inherited metabolic disorders.
Karall D et al.
Cardiovascular and Interventional Radiology, 2014
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
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
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
Glycogen storage disease type 1a in three siblings with the G270V mutation.
Parvari R et al.
Journal of Inherited Metabolic Disease, 1999
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
Glycogen storage disease type Ia: four novel mutations (175delGG, R170X, G266V and V338F) identified. Mutations in brief no. 220. Online.
Rake JP et al.
Human Mutation, 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
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