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Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts

Archive ouverte | Joncquel-Chevalier Curt, Marie | CCSD

International audience. Creatine transporter is currently the focus of renewed interest with emerging roles in brain neurotransmission and physiology, and the bioenergetics of cancer metastases. We here report on am...

Antioxidants other than vitamin c may be detected by glucose meters: immediate relevance for patients with disorders targeted by antioxidant therapies

Archive ouverte | Grzych, Guillaume | CCSD

International audience. Owing to their ease of use, glucose meters are frequently used in research and medicine. However, little is known of whether other non-glucose molecules, besides vitamin C, interfere with glu...

Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency

Archive ouverte | Fontaine, Monique | CCSD

International audience. Carnitine palmitoyltransferase type 2 (CPT2) deficiency, a mitochondrial fatty acid oxidation disorder (MFAOD), is a cause of myopathy in its late clinical presentation. As for other MFAODs, ...

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