Associated Papers
A functional mini-GDE transgene corrects impairment in models of glycogen storage disease type III.
Gardin A et al.
The Journal of Clinical Investigation, 2024
Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation.
Miao M et al.
Bmc Medical Genomics, 2022
35831859 (PubMed )
Supplement: 12920_2022_1311_MOESM1_ESM.xls › filtered_data
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
Novel AGL mutation in a Turkish patient with glycogen storage disease type IIIa.
Aoyama Y et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2010
A Japanese patient with cardiomyopathy caused by a novel mutation R285X in the AGL gene.
Ogimoto A et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2007
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
Mutational and haplotype analysis of AGL in patients with glycogen storage disease type III.
Horinishi A et al.
Journal of Human Genetics, 2002
Compound heterozygous patient with glycogen storage disease type III: identification of two novel AGL mutations, a donor splice site mutation of Chinese origin and a 1-bp deletion of Japanese origin.
Okubo M et al.
American Journal of Medical Genetics, 2000
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