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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2011
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249187/
https://www.ncbi.nlm.nih.gov/pubmed/21556832
http://dx.doi.org/10.1007/s10545-011-9345-1

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