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
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 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
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
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.
Yu J et al.
Clinical Genetics, 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
Integrative analysis of pathogenic variants in glucose-6-phosphatase based on an AlphaFold2 model.
Sinclair M et al.
Pnas Nexus, 2024
Glycogen Storage Disease Type I With Hypercalcemia in an Infant: A Case Report.
Elouali A et al.
Cureus, 2023
Molecular mechanisms of catalytic inhibition for active site mutations in glucose-6-phosphatase catalytic subunit 1 linked to glycogen storage disease.
Sinclair M et al.
Biorxiv : the Preprint Server for Biology, 2023
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2023
A case of glycogen storage disease type Ⅰa with gout as the first manifestation.
Dan L et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2023
A glycogen storage disease type 1a patient with type 2 diabetes.
Sun Y et al.
Bmc Medical Genomics, 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
Case Report: Glycogen Storage Disease Type Ia in a Chinese Child Treated With Growth Hormone.
Wu S et al.
Frontiers in Pediatrics, 2022
Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.
Abdul Wahab SA et al.
Genetics Research, 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
Modifiable factors affecting renal preservation in type I glycogen storage disease after liver transplantation: a single-center propensity-match cohort study.
Chan YC et al.
Orphanet Journal of Rare Diseases, 2021
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
Molecular Diagnosis of Panel-Based Next-Generation Sequencing Approach and Clinical Symptoms in Patients With Glycogen Storage Disease: A Single Center Retrospective Study.
Ying S et al.
Frontiers in Pediatrics, 2020
Molecular diagnosis of glycogen storage disease type I: a review.
Beyzaei Z et al.
Excli Journal, 2019
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
Recent development and gene therapy for glycogen storage disease type Ia.
Chou JY et al.
Liver Research (beijing, China), 2017
3'-UTR SNP rs2229611 in G6PC1 affects mRNA stability, expression and Glycogen Storage Disease type-Ia risk.
Karthi S et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
Lu Y et al.
Molecular Medicine Reports, 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
A novel homozygous no-stop mutation in G6PC gene from a Chinese patient with glycogen storage disease type Ia.
Gu LL et al.
Gene, 2014
[Molecular diagnosis and prenatal diagnosis in a hereditary multiple osteochondromas family].
Tang Y et al.
Beijing Da Xue Xue Bao. Yi Xue Ban = Journal of Peking University. Health Sciences, 2013
[Gene mutations and clinical manifestations in children with glycogen storage disease type Ib].
Liang CL et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2013
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
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
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
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III].
Wang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.
Chou JY et al.
Human Mutation, 2008
Prenatal diagnosis of glycogen storage disease type Ia, presenting a new mutation in the glucose-6-phosphatase gene.
Li DZ et al.
Prenatal Diagnosis, 2007
Glycogen storage diseases: new perspectives.
Ozen H
World Journal of Gastroenterology, 2007
[Glycogen storage disease type I in a child with coexistent Cryptococcus histolyticus meningitis].
Han QH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2006
[Prenatal diagnosis of glycogen storage disease Ia by screening for hot spot mutations in combination with the 1176 nucleotide polymorphism linkage analysis].
Qiu WJ et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005
Molecular genetic analysis of glycogen storage disease type Ia in 26 Chinese patients.
Qiu WJ et al.
Journal of Inherited Metabolic Disease, 2003