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Creatine transporter deficiency
- ... have no noticeable neurological problems. Creatine transporter defect Creatine transporter deficiency SLC6A8 deficiency SLC6A8-related creatine transporter deficiency X- ...
- ... and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul;50(7):463- ... Kamp JM, Mancini GM, Salomons GS. X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. ...