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Paper Details

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Genes (Basel)
3
2023
ATP, CDG, Congenital disorders of glycosylation, LC3, LC3-, LC3-II, N, PMM2, PMM2 gene, PMM2-, PMM2-CDG patient-derived fibroblast lines, complex I, mitochondrial disorders, mitochondrial dysfunction, multisystem disorders, patient, patient-derived fibroblast lines, sorbitol
Author NameAffiliation
Andrew C EdmondsonChildren's Hospital of Philadelphia
Johan L K Van HoveSection of Clinical Genetics and Metabolism, University of Colorado
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