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

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