Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome

V. Valayannopoulos, N. Bakouh, M. Mazzuca, L. Nonnenmacher, L. Hubert, F.L. Makaci, A. Chabli, G.S. Salomons, C. Mellot-Draznieks, E. Brule, P. de Lonlay, H. Toulhoat, A. Munnich, G. Planelles, Y. de Keyzer

Research output: Contribution to journalArticleAcademicpeer-review

11 Citations (Scopus)
Original languageEnglish
Pages (from-to)103-112
JournalJournal of Inherited Metabolic Disease
Issue number1
Publication statusPublished - 2013

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