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
Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.
Sung CC et al.
Frontiers in Microbiology, 2024
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).
Rieneck K et al.
Plos One, 2023
Exome analysis reveals differentially mutated gene signatures of stage, grade and subtype in breast cancers.
Li Y et al.
Plos One, 2015
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
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations.
Aoyama Y et al.
Journal of Human Genetics, 2009
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
Heterogeneous mutations in the glycogen-debranching enzyme gene are responsible for glycogen storage disease type IIIa in Japan.
Okubo M et al.
Human Genetics, 2000
Glycogen storage disease type IIIa: first report of a causative missense mutation (G1448R) of the glycogen debranching enzyme gene found in a homozygous patient.
Okubo M et al.
Human Mutation, 1999