Associated Papers
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study.
Hashiba T et al.
Journal of Diabetes Investigation, 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
Tubular glycogen nuclei in a patient with glycogen storage disease type Ia.
Liang D et al.
Kidney International, 2024
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
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
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
Ito K et al.
The Journal of Clinical Investigation, 2023
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.
Zhang L et al.
Journal of Human Genetics, 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
Gene therapy and genome editing for type I glycogen storage diseases.
Chou JY et al.
Frontiers in Molecular Medicine, 2023
Recurrent pancreatitis and sepsis in glycogen storage disease type Ia caused by complex heterozygous mutations in 2 sisters: Case report.
Liu Q et al.
Medicine, 2022
Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report.
Wang J et al.
World Journal of Clinical Cases, 2022
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
Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry.
Du J et al.
Frontiers in Pediatrics, 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
Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation.
Wijaya YOS et al.
The Kobe Journal of Medical Sciences, 2021
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ et al.
Nutrients, 2021
A Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case.
Wei M et al.
Advances in Skin & Wound Care, 2021
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021
A case study of glycogen storage disease type Ia presenting with multiple hepatocellular adenomas: an analysis by gadolinium ethoxybenzyl-diethylenetriamine-pentaacetic acid magnetic resonance imaging.
Li X et al.
Quantitative Imaging in Medicine and Surgery, 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
Generation of a human induced pluripotent stem cell line, BRCi009-A, derived from a patient with glycogen storage disease type 1a.
Katagami Y et al.
Stem Cell Research, 2020
A case report of acute pancreatitis with glycogen storage disease type IA in an adult patient and review of the literature.
Ai J et al.
Medicine, 2020
Genotypic and clinical analysis of 49 Chinese children with hepatic glycogen storage diseases.
Liang Y et al.
Molecular Genetics & Genomic Medicine, 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
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
A patient with glycogen storage disease type Ia combined with chronic hepatitis B infection: a case report.
Wang W et al.
Bmc Medical Genetics, 2019
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
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
Inherited metabolic diseases in the Southern Chinese population: spectrum of diseases and estimated incidence from recurrent mutations.
Hui J et al.
Pathology, 2014
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
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
A novel type heterozygous mutation in the glucose-6-phosphatase gene in a Chinese patient with glycogen storage disease Ia.
Zhu J 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
Estimation of carrier frequencies of six autosomal-recessive Mendelian disorders in the Korean population.
Song MJ et al.
Journal of Human Genetics, 2012
Glucose-6-phosphatase deficiency.
Froissart R et al.
Orphanet Journal of Rare Diseases, 2011