Creatine biosynthesis and transport in health and disease
Joncquel-Chevalier Curt, Marie, Voicu, Pia-Manuela, Fontaine, Monique, Dessein, Anne-Frédérique, Porchet, Nicole, Mention-Mulliez, Karine, Dobbelaere, Dries, Soto-Ares, Gustavo, Cheillan, David, Vamecq, Joseph
Published in Biochimie (01.12.2015)
Published in Biochimie (01.12.2015)
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Journal Article
Targeted-Capture Next-Generation Sequencing in Diagnosis Approach of Pediatric Cholestasis
Almes, Marion, Spraul, Anne, Ruiz, Mathias, Girard, Muriel, Roquelaure, Bertrand, Laborde, Nolwenn, Gottrand, Fréderic, Turquet, Anne, Lamireau, Thierry, Dabadie, Alain, Bonneton, Marjorie, Thebaut, Alice, Rohmer, Babara, Lacaille, Florence, Broué, Pierre, Fabre, Alexandre, Mention-Mulliez, Karine, Bouligand, Jérôme, Jacquemin, Emmanuel, Gonzales, Emmanuel
Published in Diagnostics (Basel) (07.05.2022)
Published in Diagnostics (Basel) (07.05.2022)
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Journal Article
Opioid Facilitation of β-Adrenergic Blockade: A New Pharmacological Condition?
Vamecq, Joseph, Mention-Mulliez, Karine, Leclerc, Francis, Dobbelaere, Dries
Published in Pharmaceuticals (Basel, Switzerland) (25.09.2015)
Published in Pharmaceuticals (Basel, Switzerland) (25.09.2015)
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Journal Article
Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms
Cheillan, David, Joncquel-Chevalier Curt, Marie, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Published in Orphanet journal of rare diseases (13.12.2012)
Published in Orphanet journal of rare diseases (13.12.2012)
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Journal Article
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
Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald J A, Vamecq, Joseph
Published in Orphanet journal of rare diseases (05.10.2010)
Published in Orphanet journal of rare diseases (05.10.2010)
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Journal Article
A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency
Fontaine, Monique, Dessein, Anne-Frédérique, Douillard, Claire, Dobbelaere, Dries, Brivet, Michèle, Boutron, Audrey, Zater, Mokhtar, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Vianey-Saban, Christine, Briand, Gilbert, Porchet, Nicole, Vamecq, Joseph
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
Published in JIMD Reports - Case and Research Reports, 2012/3 (01.01.2012)
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Book Chapter
Journal Article
Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency
Fontaine, Monique, Kim, Isabelle, Dessein, Anne-Frédérique, Mention-Mulliez, Karine, Dobbelaere, Dries, Douillard, Claire, Sole, Guilhem, Schiff, Manuel, Jaussaud, Roland, Espil-Taris, Caroline, Boutron, Audrey, Wuyts, Wim, Acquaviva, Cécile, Vianey-Saban, Christine, Roland, Dominique, Joncquel-Chevalier Curt, Marie, Vamecq, Joseph
Published in Molecular genetics and metabolism (01.04.2018)
Published in Molecular genetics and metabolism (01.04.2018)
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Journal Article
A fast method for high resolution oxymetry study of skeletal muscle mitochondrial respiratory chain complexes
Vienne, Jean-Claude, Cimetta, Catherine, Dubois, Marie, Duburcq, Thibault, Favory, Raphaël, Dessein, Anne-Frédérique, Fontaine, Monique, Joncquel-Chevalier Curt, Marie, Cuisset, Jean-Marie, Douillard, Claire, Mention-Mulliez, Karine, Dobbelaere, Dries, Vamecq, Joseph
Published in Analytical biochemistry (01.07.2017)
Published in Analytical biochemistry (01.07.2017)
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Journal Article
Doubling diet fat on sugar ratio in children with mitochondrial OXPHOS disorders: Effects on a randomized trial on resting energy expenditure, diet induced thermogenesis and body composition
Béghin, Laurent, Dr, Coopman, Stéphanie, Schiff, Manuel, Vamecq, Joseph, Mention-Mulliez, Karine, Hankard, Régis, Cuisset, Jean-Marie, Ogier, Hélène, Gottrand F, Frédéric, Dobbelaere, Dries
Published in Clinical nutrition (Edinburgh, Scotland) (01.12.2016)
Published in Clinical nutrition (Edinburgh, Scotland) (01.12.2016)
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Journal Article
Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants
Dessein, Anne-Frédérique, Fontaine, Monique, Joncquel-Chevalier Curt, Marie, Briand, Gilbert, Sechter, Claire, Mention-Mulliez, Karine, Dobbelaere, Dries, Douillard, Claire, Lacour, Arnaud, Redonnet-Vernhet, Isabelle, Lamireau, Delphine, Barth, Magalie, Minot-Myhié, Marie-Christine, Kuster, Alice, de Lonlay, Pascale, Gregersen, Niels, Acquaviva, Cécile, Vianey-Saban, Christine, Vamecq, Joseph
Published in Clinica chimica acta (01.08.2017)
Published in Clinica chimica acta (01.08.2017)
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Journal Article
Creatine and guanidinoacetate reference values in a French population
Joncquel-Chevalier Curt, Marie, Cheillan, David, Briand, Gilbert, Salomons, Gajja S., Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Des Portes, Vincent, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Tardieu, Marc, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Published in Molecular genetics and metabolism (01.11.2013)
Published in Molecular genetics and metabolism (01.11.2013)
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Journal Article
Five year follow-up of two sisters with type II sialidosis: systemic and ophthalmic findings including OCT analysis
Rosenberg, Rémi, Halimi, Emmanuel, Mention-Mulliez, Karine, Cuisset, Jean-Marie, Holder, Muriel, Defoort-Dhellemmes, Sabine
Published in Journal of pediatric ophthalmology and strabismus (02.07.2013)
Published in Journal of pediatric ophthalmology and strabismus (02.07.2013)
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Journal Article
Deuterated palmitate-driven acylcarnitine formation by whole-blood samples for a rapid diagnostic exploration of mitochondrial fatty acid oxidation disorders
Dessein, Anne-Frédérique, Fontaine, Monique, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Vamecq, Joseph
Published in Clinica chimica acta (01.08.2009)
Published in Clinica chimica acta (01.08.2009)
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Journal Article
A novel mutation of the ACADM gene associated with the common c.985AG mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Ma, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Published in Orphanet journal of rare diseases (05.10.2010)
Published in Orphanet journal of rare diseases (05.10.2010)
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Journal Article
A novel mutation of the ACADM gene
Dessein, Anne-Frédérique, Fontaine, Monique, Andresen, Brage S, Gregersen, Niels, Brivet, Michèle, Rabier, Daniel, Napuri-Gouel, Silvia, Dobbelaere, Dries, Mention-Mulliez, Karine, Martin-Ponthieu, Annie, Briand, Gilbert, Millington, David S, Vianey-Saban, Christine, Wanders, Ronald JA, Vamecq, Joseph
Published in Orphanet journal of rare diseases (05.10.2010)
Published in Orphanet journal of rare diseases (05.10.2010)
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Journal Article
The consulting physician for withdrawal of life-sustaining treatments in children
Cremer, R, Fayoux, P, Guimber, D, Joriot, S, Laffargue, A, Lervat, C, Matthews, A, Mention, K, Sfeir, R, Storme, L, Thomas, D, Thumerelle, C, Vandoolaeghe, S
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
Published in Archives de pédiatrie : organe officiel de la Société française de pédiatrie (01.08.2012)
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Journal Article