Back to matchesWe found a matchYour institution may have rights to this item. Sign in to continue.TitleFunctional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8) deficiency syndrome.AuthorsValayannopoulos, Vassili; Bakouh, Naziha; Mazzuca, Michel; Nonnenmacher, Luc; Hubert, Laurence; Makaci, Fatna-Léa; Chabli, Allel; Salomons, Gajja; Mellot-Draznieks, Caroline; Brulé, Emilie; Lonlay, Pascale; Toulhoat, Hervé; Munnich, Arnold; Planelles, Gabrielle; Keyzer, YvesPublicationJournal of Inherited Metabolic Disease, 2013, Vol 36, Issue 1, p103ISSN0141-8955Publication typeArticleDOI10.1007/s10545-012-9495-9