Associated Papers
Clinical features and rare complications in 132 patients with hepatic glycogenosis.
Kor D et al.
Orphanet Journal of Rare Diseases, 2025
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
Pervasive occurrence of splice-site-creating mutations and their possible involvement in genetic disorders.
Sakaguchi N et al.
Npj Genomic Medicine, 2022
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G et al.
Molecular Genetics and Metabolism Reports, 2021
Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.
Ramensky VE et al.
Frontiers in Genetics, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP et al.
Journal of Inherited Metabolic Disease, 2016
Spectrum of AGL mutations in Chinese patients with glycogen storage disease type III: identification of 31 novel mutations.
Lu C et al.
Journal of Human Genetics, 2016
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types.
Wang J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Mutation Analysis in Glycogen Storage Disease Type III Patients in the Netherlands: Novel Genotype-Phenotype Relationships and Five Novel Mutations in the AGL Gene.
Sentner CP et al.
Jimd Reports, 2013
Glycogen storage disease type III in the Irish population.
Crushell E et al.
Journal of Inherited Metabolic Disease, 2010
Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III.
Goldstein JL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010