Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.
Shalini BahlDawn CordeiroLauren MacNeilAndreas SchulzeSaadet Mercimek-MahmutogluPublished in: Orphanet journal of rare diseases (2020)
Even though the diagnostic yield of urine creatine metabolite panel is low, it can successfully detect CCDD patients, despite many neurodevelopmental disorders are not a result of CCDD. To the best of our knowledge, this study is the first Canadian study to report diagnostic yield of urine creatine metabolite panel for CCDD from a single center.