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

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...

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Autors principals: van de Kamp, Jiddeke M., Pouwels, Petra J. W., Aarsen, Femke K., ten Hoopen, Leontine W., Knol, Dirk L., de Klerk, Johannes B., de Coo, Ireneus F., Huijmans, Jan G. M., Jakobs, Cornelis, van der Knaap, Marjo S., Salomons, Gajja S., Mancini, Grazia M. S.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2011
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Original Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3249187/
https://ncbi.nlm.nih.gov/pubmed/21556832
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9345-1
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