Browsing by Author "Estienne, M."

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    X-linked creatine deficiency syndrome: A novel mutation in creatine transporter gene SLC6A8
    (Wiley-liss, 2002)
    Bizzi, A.
    ;
    Bugiani, M.
    ;
    Salomons, G. S.
    ;
    Hunneman, Donald H.  
    ;
    Moroni, I.
    ;
    Estienne, M.
    ;
    Danesi, U.
    ;
    Jakobsen, Jannik E.
    ;
    Uziel, G.
    Among creatine deficiency syndromes, an X-linked condition related to a defective creatine transport into the central nervous system has been described recently. Hallmarks of the disease are the absence of a creatine signal at brain spectroscopy, increased creatine levels in blood and urine, ineffectiveness of oral supplementation, and a mutation in the SLC6A8 (Online Mendelian Inheritance in Man [OMIM] 300036) creatine transporter gene. We report on a patient in whom a novel mutation (1221-1223delTTC) was identified.