Monique Fontaine
Lille, 59000, France
Last Updated: 09/26/2026
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Found 9 publications
A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency.
Journal: Molecular genetics and metabolism reports
Published: October 05, 2021
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.
Journal: Molecular genetics and metabolism
Published: November 21, 2017
Functional assessment of creatine transporter in control and X-linked SLC6A8-deficient fibroblasts.
Journal: Molecular genetics and metabolism
Published: October 25, 2017
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes.
Journal: Analytical biochemistry
Published: March 24, 2017
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Journal: Molecular genetics and metabolism
Published: February 07, 2017
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: February 05, 2017
1471 delTTCT a Common Mutation of Tunisian Patients with Lysinuric Protein Intolerance.
Journal: Clinical laboratory
Published: February 18, 2016
Creatine biosynthesis and transport in health and disease.
Journal: Biochimie
Published: July 02, 2015
Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.
Journal: Biochimica et biophysica acta
Published: March 13, 2013
Showing 1-9 of 9
Last Updated: 09/26/2026