1.
J Inherit Metab Dis
; 29(2-3): 345-6, 2006.
Artículo
en Inglés
| MEDLINE
| ID: mdl-16763899
RESUMEN
In the study reported, we prove that mutations in the SLC6A8 gene are responsible for SLC6A8 deficiency, a cerebral creatine deficiency syndrome (CCDS), since overexpression of the wild-type SLC6A8 open reading frame (ORF) restores the creatine uptake profile in SLC6A8-deficient fibroblasts.