A novel mutation of the <it>ACADM </it>gene (c.145C>G) associated with the common c.985A>G mutation on the other <it>ACADM </it>allele causes mild MCAD deficiency: a case report

by Briand Gilbert, Martin-Ponthieu Annie, Mention-Mulliez Karine, Dobbelaere Dries, Rabier Daniel, Napuri-Gouel Silvia, Brivet Michèle, Gregersen Niels, Andresen Brage S, Fontaine Monique, Dessein Anne-Frédérique, Millington David S, Vianey-Saban Christine, Wanders Ronald JA, Vamecq Joseph
Published 2010-10-01

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

by Cheillan David, Curt Marie Joncquel-Chevalier, 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 2012-12-01