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

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-...

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Bibliographic Details
Main Authors: Chilosi Annamaria, Casarano Manuela, Comparini Alessandro, Battaglia Francesca, Mancardi Margherita, Schiaffino Cristina, Tosetti Michela, Leuzzi Vincenzo, Battini Roberta, Cioni Giovanni
Format: Article
Language:English
Published: BMC 2012-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Creatine transporter deficiency
XLMR
Speech delay
Arginine treatment
<it>SLC6A8</it> gene
Magnetic resonance spectroscopy
Online Access:http://www.ojrd.com/content/7/1/43

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