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Clinical Validation of Targeted and Untargeted Metabolomics Testing for Genetic Disorders: A 3 Year Comparative Study
Global untargeted metabolomics (GUM) has entered clinical diagnostics for genetic disorders. We compared the clinical utility of GUM with traditional targeted metabolomics (TM) as a screening tool in patients with established genetic disorders and determined the scope of GUM as a discovery tool in p...
Autores principales: | Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7287104/ https://www.ncbi.nlm.nih.gov/pubmed/32523032 http://dx.doi.org/10.1038/s41598-020-66401-2 |
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