Associated Papers
Congenital nephrotic syndrome in a newborn with glycogen storage disease and Wilms tumor 1 (WT1) mutation.
Annicchiarico Petruzzelli L et al.
Cen Case Reports, 2026
The Wnt/β-catenin signaling pathway mediates renal fibrosis in glycogen storage disease type Ib nephropathy.
Pratap K et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
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
Broadening the Phenotype and Genotype Spectrum of Glycogen Storage Disease by Unraveling Novel Variants in an Iranian Patient Cohort.
Moghimi P et al.
Biochemical Genetics, 2025
In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction.
Sprecher U et al.
Molecular Genetics and Metabolism Reports, 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
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Diagnostic efficacy and clinical utility of whole-exome sequencing in Czech pediatric patients with rare and undiagnosed diseases.
Slaba K et al.
Scientific Reports, 2024
Base-editing corrects metabolic abnormalities in a humanized mouse model for glycogen storage disease type-Ia.
Arnaoutova I et al.
Nature Communications, 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
Gene therapy for glycogen storage diseases.
Koeberl DD et al.
Journal of Inherited Metabolic Disease, 2024
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Beyond Single Diagnosis: Exploring Multidiagnostic Realities in Pediatric Patients through Genome Sequencing.
Guo F et al.
Human Mutation, 2024
CRISPR/Cas9-based double-strand oligonucleotide insertion strategy corrects metabolic abnormalities in murine glycogen storage disease type-Ia.
Samanta A et al.
Journal of Inherited Metabolic Disease, 2023
Development of hepatocellular adenomas in a patient with glycogen storage disease Ia treated with growth hormone therapy.
Jackson DG et al.
Jimd Reports, 2023
Glycogen storage diseases: An update.
Gümüş E et al.
World Journal of Gastroenterology, 2023
Blood glucose trends in glycogen storage disease type Ia: A cross-sectional study.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2023
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia.
Rossi A et al.
Genes & Nutrition, 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
Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.
Gul B et al.
Plos One, 2023
The most common founder pathogenic variant c.868G > A (p.Val290Met) in the NPHS2 gene in a representative adult Czech cohort with focal segmental glomerulosclerosis is associated with a milder disease and its underdiagnosis in childhood.
Thomasová D et al.
Frontiers in Medicine, 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
Urine-Derived Epithelial Cells as a New Model to Study Renal Metabolic Phenotypes of Patients with Glycogen Storage Disease 1a.
Lenzini L et al.
International Journal of Molecular Sciences, 2022
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Studies on glycogen storage disease type 1a animal models: a brief perspective.
Petrova IO et al.
Transgenic Research, 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
Very early-onset inflammatory bowel disease: Novel description in glycogen storage disease type Ia.
Hannah WB et al.
Molecular Genetics and Metabolism Reports, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 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
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
Glycogen Storage Disease Type Ia: Current Management Options, Burden and Unmet Needs.
Derks TGJ et al.
Nutrients, 2021
Recommendation of premarital genetic screening in the Syrian Jewish community based on mutation carrier frequencies within Syrian Jewish cohorts.
Zeevi DA et al.
Molecular Genetics & Genomic Medicine, 2021
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021