Functional and electrophysiological characterization of four non-truncating mutations responsible for creatine transporter ( SLC6A8 ) deficiency syndrome

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Journal of Inherited Metabolic Disease, Vol. 36, Iss. 1, 2013-01 ,pp. : 103-112

Springer Publishing Company

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New insights into creatine transporter deficiency: the importance of recycling creatine in the brain

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Journal of Inherited Metabolic Disease, Vol. 36, Iss. 1, 2013-01 ,pp. : 155-156

Springer Publishing Company

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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

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Springer Publishing Company

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Creatine transporter deficiency in two adult patients with static encephalopathy

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Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect

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Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 141-149

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