Associated Papers
Usher syndrome type 2A complicated with glycogen storage disease type 3 due to paternal uniparental isodisomy of chromosome 1 in a sporadic patient.
Wang H et al.
Molecular Genetics & Genomic Medicine, 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
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
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