TY  - GEN
AU  - Fontaine,Monique
AU  - Kim,Isabelle
AU  - Dessein,Anne-Frédérique
AU  - Mention-Mulliez,Karine
AU  - Dobbelaere,Dries
AU  - Douillard,Claire
AU  - Sole,Guilhem
AU  - Schiff,Manuel
AU  - Jaussaud,Roland
AU  - Espil-Taris,Caroline
AU  - Boutron,Audrey
AU  - Wuyts,Wim
AU  - Acquaviva,Cécile
AU  - Vianey-Saban,Christine
AU  - Roland,Dominique
AU  - Joncquel-Chevalier Curt,Marie
AU  - Vamecq,Joseph
TI  - Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
SN  - 1096-7206
PY  - 2019///0708
KW  - Adolescent
KW  - Adult
KW  - Biomarkers
KW  - blood
KW  - Carnitine O-Palmitoyltransferase
KW  - Child
KW  - Child, Preschool
KW  - Female
KW  - Follow-Up Studies
KW  - Humans
KW  - Infant
KW  - Male
KW  - Metabolic Flux Analysis
KW  - Metabolism, Inborn Errors
KW  - Middle Aged
KW  - Muscular Diseases
KW  - Mutation
KW  - Oxidation-Reduction
KW  - Palmitic Acid
KW  - Prognosis
KW  - Retrospective Studies
KW  - Young Adult
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2018.02.005
ER  -