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
Clinical characteristics of 50 hepatocellular adenoma patients among 164 cases of glycogen storage disease type Ia.
Xu Y et al.
European Journal of Pediatrics, 2025
Safety and Efficacy of DTX401, an AAV8-Mediated Liver-Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).
Weinstein DA et al.
Journal of Inherited Metabolic Disease, 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
A case study of a liver transplant-treated patient with glycogen storage disease type Ia presenting with multiple inflammatory hepatic adenomas: an analysis of clinicopathologic and genetic data.
Wang A et al.
Bmc Medical Genomics, 2024
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2023
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
Gene therapy and genome editing for type I glycogen storage diseases.
Chou JY et al.
Frontiers in Molecular Medicine, 2023
Large-scale exome array summary statistics resources for glycemic traits to aid effector gene prioritization.
Willems SM et al.
Wellcome Open Research, 2023
Glycogen storage disease type 1a in the Ohio Amish.
Scott EM et al.
Jimd Reports, 2022
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
Clinical features of gout in adult patients with type Ia glycogen storage disease: a single-centre retrospective study and a review of literature.
Xu N et al.
Arthritis Research & Therapy, 2022
DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis.
Niba ETE et al.
International Journal of Neonatal Screening, 2021
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Muzetti JH et al.
Frontiers in Endocrinology, 2021
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
Novel variants in Turkish patients with glycogen storage disease.
Çakar NE et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2020
Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.
Perry A et al.
Jimd Reports, 2020
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
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Molecular diagnosis of glycogen storage disease type I: a review.
Beyzaei Z et al.
Excli Journal, 2019
Glycogen storage disease type Ia: Adult presentation with microcytic anemia and liver adenomas.
Moest W et al.
Hepatology (baltimore, Md.), 2018
Genetic characterization of GSD I in Serbian population revealed unexpectedly high incidence of GSD Ib and 3 novel SLC37A4 variants.
Skakic A et al.
Clinical Genetics, 2018
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
Recent development and gene therapy for glycogen storage disease type Ia.
Chou JY et al.
Liver Research (beijing, China), 2017
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Zhang B et al.
Clinical Rheumatology, 2016
Progressive development of renal cysts in glycogen storage disease type I.
Gjorgjieva M et al.
Human Molecular Genetics, 2016
Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach.
Chaturvedi S et al.
Scientifica, 2016
Three novel mutations of the G6PC gene identified in Chinese patients with glycogen storage disease type Ia.
Zheng BX et al.
European Journal of Pediatrics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Determining mutations in G6PC and SLC37A4 genes in a sample of Brazilian patients with glycogen storage disease types Ia and Ib.
Carlin MP et al.
Genetics and Molecular Biology, 2013
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
Preemptive liver-kidney transplantation in von Gierke disease: a case report.
Marega A et al.
Transplantation Proceedings, 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
Glycogen storage diseases: new perspectives.
Ozen H
World Journal of Gastroenterology, 2007
Combined liver-kidney transplantation in glycogen storage disease Ia: a case beyond the guidelines.
Belingheri M et al.
Liver Transplantation : Official Publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society, 2007
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population.
Ekstein J et al.
American Journal of Medical Genetics. Part A, 2004
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