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- Title
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
- Authors
Valayannopoulos, Vassili; Boddaert, Nathalie; Chabli, Allel; Barbier, Valerie; Desguerre, Isabelle; Philippe, Anne; Afenjar, Alexandra; Mazzuca, Michel; Cheillan, David; Munnich, Arnold; de Keyzer, Yves; Jakobs, Cornelis; Salomons, Gajja S; de Lonlay, Pascale
- Abstract
X-linked cerebral creatine deficiency is caused by the deficiency of the creatine transporter (CTP) encoded by the SLC6A8 gene.
- Publication
Journal of inherited metabolic disease, 2012, Vol 35, Issue 1, p151
- ISSN
1573-2665
- Publication type
Journal Article
- DOI
10.1007/s10545-011-9358-9