Associated Papers
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
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients.
Ben Chehida A et al.
Neuropediatrics, 2019
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 and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.
Ben Rhouma F et al.
Molecular Biology Reports, 2013
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
Prenatal diagnosis of glycogen storage disorder type III.
Sujatha J et al.
Indian Pediatrics, 2010
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 characterization of glycogen storage disease type III.
Shen JJ et al.
Current Molecular Medicine, 2002
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
Horinishi A et al.
Journal of Human 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
Genotype-phenotype correlation in two frequent mutations and mutation update in type III glycogen storage disease.
Shaiu WL et al.
Molecular Genetics and Metabolism, 2000
A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.
Basit S et al.
Annals of Saudi Medicine, 0
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