Associated Papers
Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter (SLC6A8) deficiency syndrome.
Valayannopoulos V et al.
Journal of Inherited Metabolic Disease, 2013
Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect.
Valayannopoulos V et al.
Journal of Inherited Metabolic Disease, 2012
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