Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiency

BACKGROUND: SLC6A8, an X-linked gene, encodes the creatine transporter (CRTR) and its mutations lead to cerebral creatine (Cr) deficiency which results in mental retardation, speech and language delay, autistic-like behaviour and epilepsy (CRTR-D, OMIM 300352). CRTR-D represents the most frequent Cr...

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Detalles Bibliográficos
Autores principales: Chilosi, Annamaria, Casarano, Manuela, Comparini, Alessandro, Battaglia, Francesca Maria, Mancardi, Margherita Maria, Schiaffino, Cristina, Tosetti, Michela, Leuzzi, Vincenzo, Battini, Roberta, Cioni, Giovanni
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526552/
https://www.ncbi.nlm.nih.gov/pubmed/22713831
http://dx.doi.org/10.1186/1750-1172-7-43

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