Associated Papers
Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.
Bui QM et al.
Future Cardiology, 2025
Nutritional management of glycogen storage disease type III: a case report and a critical appraisal of the literature.
Massimino E et al.
Frontiers in Nutrition, 2023
Performance evaluation of differential splicing analysis methods and splicing analytics platform construction.
Li K et al.
Nucleic Acids Research, 2022
Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.
Dellefave-Castillo LM et al.
Jama Cardiology, 2022
The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III.
Wang J et al.
Bmc Pediatrics, 2022
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
Genetic analysis and long-term treatment monitoring of 11 children with glycogen storage disease type IIIa.
Du C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
Intron retention is among six unreported AGL mutations identified in Malaysian GSD III patients.
Abdullah IS et al.
Genes & Genomics, 2019
Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.
Vega AI et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome.
Sentner CP et al.
Journal of Inherited Metabolic Disease, 2016
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.
Decostre V et al.
Neuromuscular Disorders : Nmd, 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
A mutation analysis of the AGL gene in Korean patients with glycogen storage disease type III.
Ko JS et al.
Journal of Human Genetics, 2014
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
Hepatic and neuromuscular forms of glycogenosis type III: nine mutations in AGL.
Lucchiari S et al.
Human Mutation, 2006