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    X-linked creatine transporter defect: An overview

    Summary: In 2001 we identified a new inborn error of metabolism caused by a defect in the X-linked creatine transporter SLC6A8 gene mapped at Xq28 (SLC6A8 deficiency, McKusick 300352). An...

    G. S. Salomons, S. J. M. Van Dooren… in Journal of Inherited Metabolic Disease (2003)