Overexpression of wild-type creatine transporter (SLC6A8) restores creatine uptake in primary SLC6A8-deficient fibroblasts

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GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: Identification and functional characterization of four novel mutations

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

By Kamp Jiddeke  

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Creatine transporter deficiency in two adult patients with static encephalopathy

By Sempere A.   Fons C.   Arias A.   Rodríguez-Pombo P.   Colomer R.   Merinero B.   Alcaide P.   Capdevila A.   Ribes A.   Artuch R.   Campistol J.  

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Four novel PDHA1 mutations in pyruvate dehydrogenase deficiency

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