Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

J.M. van de Kamp, P.J.W. Pouwels, F.K. Aarsen, L.W. Hoopen, D.L. Knol, J.B. de Klerk, I.F. de Coo, J.G. Huijmans, C.A.J.M. Jakobs, M.S. van der Knaap, G.S. Salomons, G.M. Mancini

    Research output: Contribution to JournalArticleAcademicpeer-review

    Abstract

    The creatine transporter (CRTR) defect is a recently discovered cause of X-linked intellectual disability for which treatment options have been explored. Creatine monotherapy has not proved effective, and the effect of treatment with L-arginine is still controversial. Nine boys between 8 months and 10 years old with molecularly confirmed CRTR defect were followed with repeated
    Original languageEnglish
    Pages (from-to)141-149
    JournalJournal of Inherited Metabolic Disease
    Volume35
    Issue number1
    DOIs
    Publication statusPublished - 2012

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