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Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolism

Global metabolic profiling currently achievable by untargeted mass spectrometry-based metabolomic platforms has great potential to advance our understanding of human disease states, including potential utility in the detection of novel and known inborn errors of metabolism (IEMs). There are few stud...

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Dades bibliogràfiques
Publicat a:J Inherit Metab Dis
Autors principals: Miller, Marcus J., Kennedy, Adam D., Eckhart, Andrea D., Burrage, Lindsay C., Wulff, Jacob E., Miller, Luke A.D., Milburn, Michael V., Ryals, John A., Beaudet, Arthur L., Sun, Qin, Sutton, V. Reid, Elsea, Sarah H.
Format: Artigo
Idioma:Inglês
Publicat: Springer Netherlands 2015
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4626538/
https://ncbi.nlm.nih.gov/pubmed/25875217
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-015-9843-7
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