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...
Main Authors: | , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2020-12-01
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Series: | Orphanet Journal of Rare Diseases |
Subjects: | |
Online Access: | https://doi.org/10.1186/s13023-020-01617-z |