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
Conserved missense variant pathogenicity and correlated phenotypes across paralogous genes.
Brünger T et al.
Genome Biology, 2025
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
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
Assessment of auditory functions in patients with hepatic glycogen storage diseases.
Şanlı ME et al.
The Turkish Journal of Pediatrics, 2022
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ et al.
Nutrients, 2021
Is serum biotinidase enzyme activity a potential marker of perturbed glucose and lipid metabolism?
Forny P et al.
Jimd Reports, 2021
Molecular diagnosis of glycogen storage disease type I: a review.
Beyzaei Z et al.
Excli Journal, 2019
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
Glucose-6-phosphatase deficiency.
Froissart R et al.
Orphanet Journal of Rare Diseases, 2011
Glycogen storage disease type I and G6Pase-β deficiency: etiology and therapy.
Chou JY et al.
Nature Reviews. Endocrinology, 2010
Emerging therapies for glycogen storage disease type I.
Koeberl DD et al.
Trends in Endocrinology and Metabolism: Tem, 2009
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction.
Martens DH et al.
Journal of Inherited Metabolic Disease, 2006
Mutation spectrum of type I glycogen storage disease in Hungary.
Miltenberger-Miltenyi G et al.
Journal of Inherited Metabolic Disease, 2005
Improved neutrophil function in a glycogen storage disease type 1b patient after liver transplantation.
Adachi M et al.
European Journal of Pediatrics, 2004
Apoptotic neutrophils in the circulation of patients with glycogen storage disease type 1b (GSD1b).
Kuijpers TW et al.
Blood, 2003
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
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype.
Weston BW et al.
Pediatric Research, 2000
Identification of mutations in the glucose-6-phosphatase gene in Czech and Slovak patients with glycogen storage disease type ia, including novel mutations K76N, V166A and 540del5.
Kozák L 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 genetic analysis of 40 patients with glycogen storage disease type Ia: 100% mutation detection rate and 5 novel mutations.
Seydewitz HH et al.
Human Mutation, 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
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
Identification of three novel mutations (Q54P, W70X and T108I) in the glucose-6-phosphatase gene of patients with glycogen storage disease type Ia. Mutation in brief no. 256. Online.
Trioche P et al.
Human Mutation, 1999
Mutation analysis in 24 French patients with glycogen storage disease type 1a.
Chevalier-Porst F et al.
Journal of Medical Genetics, 1996
Hypercalcemia in glycogen storage disease type I patients of Turkish origin.
Kasapkara CS et al.
The Turkish Journal of Pediatrics, 0