Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data

Untargeted metabolomics is a global molecular profiling technology that can be used to screen for inborn errors of metabolism (IEMs). Metabolite perturbations are evaluated based on current knowledge of specific metabolic pathway deficiencies, a manual diagnostic process that is qualitative, has lim...

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Detalles Bibliográficos
Autores principales: Thistlethwaite, Lillian R., Li, Xiqi, Burrage, Lindsay C., Riehle, Kevin, Hacia, Joseph G., Braverman, Nancy, Wangler, Michael F., Miller, Marcus J., Elsea, Sarah H., Milosavljevic, Aleksandar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023513/
https://www.ncbi.nlm.nih.gov/pubmed/35449147
http://dx.doi.org/10.1038/s41598-022-10415-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9023513/
https://www.ncbi.nlm.nih.gov/pubmed/35449147
http://dx.doi.org/10.1038/s41598-022-10415-5

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