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Treatment by oral creatine, L-arginine and L-glycine in six severely affected patients with creatine transporter defect

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    Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

    A population of patients with unexplained neurological symptoms from six major French university hospitals was screened over a 28-month period for primary creatine disorder (PCD). Urine guanidinoacetate (GAA) ...

    David Cheillan, Marie Joncquel-Chevalier Curt in Orphanet Journal of Rare Diseases (2012)