M. Fontaine

发表

Creatine biosynthesis and transport in health and disease.

Gustavo Soto-Ares, G. Soto-Ares, D. Cheillan, 2015, Biochimie.

Mitochondrial dysfunction and lipid homeostasis.

G. Briand, M. Cherkaoui-Malki, J. Vamecq, 2012, Current drug metabolism.

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

G. Huet, D. Cheillan, J. Cuisset, 2018, Molecular genetics and metabolism.

Effects of Lorenzo's Oil on peroxisomes in healthy mice.

J. Vamecq, M. Fontaine, C. van den Branden, 1998, Prostaglandins & other lipid mediators.

A novel HADHA variant associated with an atypical moderate and late-onset LCHAD deficiency

J. Vamecq, S. Defoort, C. Dhaenens, 2022, Molecular genetics and metabolism reports.

Stroke, hemiparesis and deficient mitochondrial β-oxidation

L. Vallée, P. Divry, M. Lhermitte, 1994, European Journal of Pediatrics.

Direct analysis by electrospray ionization and matrix-assisted laser desorption ionization mass spectrometry of standard and urinary acylcarnitines. Comparison with fast atom bombardment and gas chromatography chemical ionization mass spectrometry

G. Briand, J. Vamecq, M. Fontaine, 1995 .

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

R. Favory, J. Cuisset, J. Vamecq, 2017, Analytical biochemistry.

Metabolic studies in a patient with severe carnitine palmitoyltransferase type II deficiency.

P. Divry, G. Briand, C. Vianey‐Saban, 1998, Clinica chimica acta; international journal of clinical chemistry.

Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation.

L. Vallée, P. Divry, G. Briand, 1996, Clinica chimica acta; international journal of clinical chemistry.

Metabolic studies in twin brothers with 2-methylacetoacetyl-CoA thiolase deficiency.

M. Rolland, G. Briand, J. Vamecq, 1996, Clinica chimica acta; international journal of clinical chemistry.

A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency.

G. Briand, J. Vamecq, D. Dobbelaere, 2012, JIMD reports.

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

B. Andresen, D. Rabier, N. Gregersen, 2010, Orphanet journal of rare diseases.

Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.

G. Briand, J. Vamecq, D. Dobbelaere, 2017, Molecular genetics and metabolism.

CoA esters of valproic acid and related metabolites are oxidized in peroxisomes through a pathway distinct from peroxisomal fatty and bile acyl‐CoA β‐oxidation

L. Vallée, J. Vamecq, M. Fontaine, 1993, FEBS letters.

Effect of various n-3/n-6 fatty acid ratio contents of high fat diets on rat liver and heart peroxisomal and mitochondrial beta-oxidation.

L. Vallée, J. Vamecq, M. Fontaine, 1993, Biochimica et biophysica acta.

Preliminary studies about novel strategies to reverse chemoresistance to adriamycin regarding glutathione metabolism, peroxisomal and extraperoxisomal hydroperoxide and valproic acid metabolic pathways

L. Vallée, J. Poupaert, J. Vamecq, 1993, Biology of the cell.

First report of a molecular prenatal diagnosis in a tunisian family with lysinuric protein intolerance.

A. Elgaaied, G. Briand, M. Fontaine, 2011, JIMD reports.

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

R. Jaussaud, W. Wuyts, M. Schiff, 2018, Molecular genetics and metabolism.

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

N. Gregersen, P. de Lonlay, M. Minot-Myhié, 2017, Clinica chimica acta; international journal of clinical chemistry.

Combination of lipid metabolism alterations and their sensitivity to inflammatory cytokines in human lipin-1-deficient myoblasts.

A. Smahi, A. Munnich, G. Carman, 2013, Biochimica et biophysica acta.

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

G. Briand, J. Vamecq, D. Dobbelaere, 2009, Clinica chimica acta; international journal of clinical chemistry.

Comparison of seizure reduction and serum fatty acid levels after receiving the ketogenic and modified Atkins diet

L. Vallée, S. Auvin, J. Cuisset, 2009, Seizure.

Creatine biosynthesis and transport in health and disease.

D. Cheillan, J. Vamecq, D. Dobbelaere, 2015, Biochimie.

Mitochondrial very long chain acyl-CoA dehydrogenase deficiency--a new disorder of fatty acid oxidation.

N. Kacet, M. Fontaine, C. Largillière, 1995, Archives of disease in childhood. Fetal and neonatal edition.

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

G. Briand, J. Vamecq, D. Dobbelaere, 2009, Clinica chimica acta; international journal of clinical chemistry.