Urine creatine metabolite panel as a screening test in neurodevelopmental disorders

Abstract Background Cerebral creatine deficiency disorders (CCDD) are inherited metabolic disorders of creatine synthesis and transport. Urine creatine metabolite panel is helpful to identify these disorders. Methods We reviewed electronic patient charts for all patients that underwent urine creatin...

Full description

Bibliographic Details
Main Authors: Shalini Bahl, Dawn Cordeiro, Lauren MacNeil, Andreas Schulze, Saadet Mercimek-Andrews
Format: Article
Language:English
Published: BMC 2020-12-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Online Access:https://doi.org/10.1186/s13023-020-01617-z