A Novel Mutation in CPT1A Resulting in Hepatic CPT Deficiency

Por 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
Publicado em 2012

First Report of a Molecular Prenatal Diagnosis in a Tunisian Family with Lysinuric Protein Intolerance

Por Esseghir, Nadia, Bouchlaka, Chiraz Souissi, Fredj, Sondess Hadj, Chehida, Amel Ben, Azzouz, Hatem, Fontaine, Monique, Tebib, Neji, Dridi, Marie Françoise Ben, Briand, Gilbert, Messaoud, Taieb, Elgaaied, Amel Ben Ammar, Kaabachi, Naziha
Publicado em 2011

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

Por 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
Publicado em 2010

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

Por Michot, Caroline, Mamoune, Asmaa, Vamecq, Joseph, Viou, Mai Thao, Hsieh, Lu-Sheng, Testet, Eric, Lainé, Jeanne, Hubert, Laurence, Dessein, Anne-Frédérique, Fontaine, Monique, Ottolenghi, Chris, Fouillen, Laetitia, Nadra, Karim, Blanc, Etienne, Bastin, Jean, Candon, Sophie, Pende, Mario, Munnich, Arnold, Smahi, Asma, Djouadi, Fatima, Carman, George M., Romero, Norma, de Keyzer, Yves, de Lonlay, Pascale
Publicado em 2013