Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry
Saadet Mercimek‐Mahmutoglu(University of Toronto), Sylvia Stöckler‐Ipsiroglu(Vienna General Hospital), Gajja S. Salomons(Amsterdam Neuroscience), Birgit Neophytou(St Anna Children's Hospital), Adolf Muehl(Medical University of Vienna), Eduard A. Struys(Amsterdam University Medical Centers), Olaf A. Bodamer(Broad Institute), Cornelis Jakobs(University Medical Center), Dorothea Möeslinger(Medical University of Vienna)
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