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
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G et al.
Molecular Genetics and Metabolism Reports, 2021
Crystal structure of glycogen debranching enzyme and insights into its catalysis and disease-causing mutations.
Zhai L et al.
Nature Communications, 2016
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
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