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8. A novel SLC6A8 mutation associated with intellectual disabilities in a Chinese family exhibiting creatine transporter deficiency: case report. Wang Q; Yang J; Liu Y; Li X; Luo F; Xie J BMC Med Genet; 2018 Nov; 19(1):193. PubMed ID: 30400883 [TBL] [Abstract][Full Text] [Related]
9. X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8. Bizzi A; Bugiani M; Salomons GS; Hunneman DH; Moroni I; Estienne M; Danesi U; Jakobs C; Uziel G Ann Neurol; 2002 Aug; 52(2):227-31. PubMed ID: 12210795 [TBL] [Abstract][Full Text] [Related]
10. Biochemical and clinical characteristics of creatine deficiency syndromes. Sykut-Cegielska J; Gradowska W; Mercimek-Mahmutoglu S; Stöckler-Ipsiroglu S Acta Biochim Pol; 2004; 51(4):875-82. PubMed ID: 15625559 [TBL] [Abstract][Full Text] [Related]
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16. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case]. Nozaki F; Kumada T; Shibata M; Fujii T; Wada T; Osaka H No To Hattatsu; 2015 Jan; 47(1):49-52. PubMed ID: 25803912 [TBL] [Abstract][Full Text] [Related]
17. Detection of a novel intragenic rearrangement in the creatine transporter gene by next generation sequencing. Yu H; van Karnebeek C; Sinclair G; Hill A; Cui H; Zhang VW; Wong LJ Mol Genet Metab; 2013 Dec; 110(4):465-71. PubMed ID: 24140398 [TBL] [Abstract][Full Text] [Related]