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

By Kamp Jiddeke  

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

By Valayannopoulos Vassili  

Journal of Inherited Metabolic Disease, Vol. 35, Iss. 1, 2012-01 ,pp. : 151-157

Springer Publishing Company

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

By Valayannopoulos Vassili  

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

Springer Publishing Company

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X-linked creatine transporter defect: A report on two unrelated boys with a severe clinical phenotype

By Anselm I.   Alkuraya F.   Salomons G.   Jakobs C.   Fulton A.   Mazumdar M.   Rivkin M.   Frye R.   Poussaint T.   Marsden D.  

Journal of Inherited Metabolic Disease, Vol. 29, Iss. 6, 2006-12 ,pp. : 764-764

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Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients

By Desai Shrinivas  

Pediatric Radiology, Vol. 38, Iss. 8, 2008-08 ,pp. : 848-856

Springer Publishing Company

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