Associated Papers
Glycogen storage diseases: An update.
Gümüş E et al.
World Journal of Gastroenterology, 2023
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
Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.
Jia X et al.
Molecular Psychiatry, 2021
Narrative review of glycogen storage disorder type III with a focus on neuromuscular, cardiac and therapeutic aspects.
Berling É et al.
Journal of Inherited Metabolic Disease, 2021
Novel variants in Turkish patients with glycogen storage disease.
Çakar NE et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 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
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
A Novel Nonsense Mutation of the AGL Gene in a Romanian Patient with Glycogen Storage Disease Type IIIa.
Zimmermann A et al.
Case Reports in Genetics, 2016
Molecular and clinical delineation of 12 patients with glycogen storage disease type III in Western Turkey.
Okubo M et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
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
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
A c.3216_3217delGA mutation in AGL gene in Tunisian patients with a glycogen storage disease type III: evidence of a founder effect.
Mili A et al.
Clinical Genetics, 2012
Molecular and biochemical characterization of Tunisian patients with glycogen storage disease type III.
Mili A et al.
Journal of Human Genetics, 2012
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
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Molecular analysis of the AGL gene: heterogeneity of mutations in patients with glycogen storage disease type III from Germany, Canada, Afghanistan, Iran, and Turkey.
Endo Y et al.
Journal of Human Genetics, 2006
Molecular characterization of Egyptian patients with glycogen storage disease type IIIa.
Endo Y et al.
Journal of Human Genetics, 2005
DNA-based subtyping of glycogen storage disease type III: mutation and haplotype analysis of the AGL gene in Chinese.
Lam CW et al.
Molecular Genetics and Metabolism, 2004
Molecular genetic basis and prevalence of glycogen storage disease type IIIA in the Faroe Islands.
Santer R et al.
European Journal of Human Genetics : Ejhg, 2001