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Urine creatine metabolite panel as a screening test in neurodevelopmental disorders
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 creatine metab...
Autores principales: | Bahl, Shalini, Cordeiro, Dawn, MacNeil, Lauren, Schulze, Andreas, Mercimek-Andrews, Saadet |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7709238/ https://www.ncbi.nlm.nih.gov/pubmed/33267903 http://dx.doi.org/10.1186/s13023-020-01617-z |
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