Associated Papers
Urinary tetraglucoside excretion as a biomarker in liver glycogen storage diseases.
Overduin RJ et al.
Molecular Genetics and Metabolism, 2025
Frequency of pathogenic germline variants in pediatric medulloblastoma survivors.
Rees D et al.
Frontiers in Oncology, 2024
Glycogen storage diseases: An update.
Gümüş E et al.
World Journal of Gastroenterology, 2023
Clinical and Functional Characterization of Novel AGL Variants in Two Families with Glycogen Storage Disease Type III.
Yu T et al.
International Journal of Endocrinology, 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
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
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C et al.
Scientific Reports, 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
Spectrum of amyloglucosidase mutations in Asian Indian patients with Glycogen storage disease type III.
Perveen S et al.
American Journal of Medical Genetics. Part A, 2020
Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Halaby CA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
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
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