Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40791678 (PubMed )
Supplement: media-2.xlsx › Table_S12_ClinVar_PLP_variants
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.
Bonfiglio F et al.
Ebiomedicine, 2023
36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8
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
Classifying molecular phenotypes of G6PC variants for pathogenic properties and to guide therapeutic development.
Plona KL et al.
Jimd Reports, 2021
Papillary renal cell carcinoma in two young adults with glycogen storage disease type Ia.
Perry A et al.
Jimd Reports, 2020
Glycogen storage diseases: Twenty-seven new variants in a cohort of 125 patients.
Sperb-Ludwig F et al.
Molecular Genetics & Genomic Medicine, 2019
31508908 (PubMed )
Supplement: MGG3-7-e877-s001.xlsx › Plan1
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
Rapid screening of 12 common mutations in Turkish GSD 1a patients using electronic DNA microarray.
Eminoglu TF et al.
Gene, 2013
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 disease type Ia in Argentina: two novel glucose-6-phosphatase mutations affecting protein stability.
Angaroni CJ et al.
Molecular Genetics and Metabolism, 2004
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
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