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List of works by Karine Mention-Mulliez

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

scientific article published on 31 January 2012

A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes

scientific article published on 26 April 2017

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report ⬇️

scientific article published on October 5, 2010

Creatine and guanidinoacetate reference values in a French population

scientific article published on 16 September 2013

Creatine biosynthesis and transport in health and disease

scientific article

Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders

scientific article published on 5 May 2009

Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects of a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition

scientific article

Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis

scientific article published on 2 July 2013

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

scientific article published on 12 February 2018

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants

scientific article published on 19 May 2017

Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?

scientific article

Rise in brain GABA to further stress the metabolic link between valproate and creatine

scientific article published on 14 October 2010

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

scientific article published on 13 December 2012

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