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Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Fontaine, Monique, Kim, Isabelle, Dessein, Anne-Frédérique, Mention-Mulliez, Karine, Dobbelaere, Dries, Douillard, Claire, Sole, Guilhem, Schiff, Manuel, Jaussaud, Roland, Espil-Taris, Caroline, BoutrJournal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2018.02.005
Date:
February, 2018
File:
PDF, 973 KB
2018