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Urine creatine metabolite panel as a screening test in neurodevelopmental disorders.

Shalini BahlDawn CordeiroLauren MacNeilAndreas SchulzeSaadet Mercimek-Mahmutoglu
Published 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.
Keyphrases
  • end stage renal disease
  • healthcare
  • ejection fraction
  • peritoneal dialysis
  • congenital heart disease
  • patient reported outcomes