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

<p>Abstract</p> <p>Background</p> <p>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-...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Formato: Artigo
Idioma:Inglês
Publicado em: BMC 2012-06-01
Colecção:Orphanet Journal of Rare Diseases
Assuntos:
Creatine transporter deficiency
XLMR
Speech delay
Arginine treatment
<it>SLC6A8</it> gene
Magnetic resonance spectroscopy
Acesso em linha:http://www.ojrd.com/content/7/1/43
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados