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...

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Detalles Bibliográficos
Autores principales: Almontashiri, Naif A. M., Zha, Li, Young, Kim, Law, Terence, Kellogg, Mark D., Bodamer, Olaf A., Peake, Roy W. A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Article
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

Internet

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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