Associated Papers
Identification of a novel nonsense mutation in the AGL gene in glycogen storage disease type IIIa: first genetically confirmed case report from Morocco.
Jakani M et al.
Molecular Biology Reports, 2025
Whole exome sequencing reveals several novel variants in congenital disorders of glycosylation and glycogen storage diseases in seven patients from Iran.
Papi A et al.
Molecular Genetics & Genomic Medicine, 2023
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
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Paschall A et al.
Molecular Genetics and Metabolism, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 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
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
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 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
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS
Seminars in Pediatric Neurology, 2006
Clinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.
Lucchiari S et al.
American Journal of Medical Genetics, 2002
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
Novel mutations in two Japanese cases of glycogen storage disease type IIIa and a review of the literature of the molecular basis of glycogen storage disease type III.
Fukuda T et al.
Journal of Inherited Metabolic Disease, 2000
Two new mutations in the 3' coding region of the glycogen debranching enzyme in a glycogen storage disease type IIIa Ashkenazi Jewish patient.
Parvari R et al.
Journal of Inherited Metabolic Disease, 1998
Mutations in exon 3 of the glycogen debranching enzyme gene are associated with glycogen storage disease type III that is differentially expressed in liver and muscle.
Shen J et al.
The Journal of Clinical Investigation, 1996