Associated Papers
Clinical and molecular characterization of hepatic glycogen storage disease in Saudi Arabia.
Al-Hussaini A et al.
Plos One, 2025
Glycogen storage diseases: An update.
Gümüş E et al.
World Journal of Gastroenterology, 2023
Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.
Wen J et al.
American Journal of Medical Genetics. Part A, 2022
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
Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment.
Laforêt P et al.
Acta Neuropathologica Communications, 2019
Long term longitudinal study of muscle function in patients with glycogen storage disease type IIIa.
Decostre V et al.
Molecular Genetics and Metabolism, 2017
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
Cross-sectional retrospective study of muscle function in patients with glycogen storage disease type III.
Decostre V et al.
Neuromuscular Disorders : Nmd, 2016
Cognitive profile of patients with glycogen storage disease type III: a clinical description of seven cases.
Michon CC et al.
Journal of Inherited Metabolic Disease, 2015
A founder AGL mutation causing glycogen storage disease type IIIa in Inuit identified through whole-exome sequencing: a case series.
Rousseau-Nepton I et al.
Cmaj : Canadian Medical Association Journal = Journal De L'association Medicale Canadienne, 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
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 characterization of Egyptian patients with glycogen storage disease type IIIa.
Endo Y et al.
Journal of Human Genetics, 2005
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
Prenatal diagnosis and carrier detection for glycogen storage disease type III using polymorphic DNA markers.
Shen J et al.
Prenatal Diagnosis, 1998