A novel SLC6A8 mutation associated with motor dysfunction in a child exhibiting creatine transporter deficiency
Creatine transporter (CT) deficiency is an X-linked disorder caused by mutations in the SLC6A8 gene. We describe a clinical, biochemical and molecular examination of a child with X-linked cerebral creatine deficiency. Increased urinary creatine/creatinine ...
Oct 29, 2015 ... This article has been cited by other articles in PMC. Go to: Associated Data. Data Citations. Cristina Cervera- ...