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Metabolomic Profiling of Human Urine as a Screen for Multiple Inborn Errors of Metabolism

Aims: We wished to determine the efficacy of using urine as an analyte to screen for a broad range of metabolic products associated with multiple different types of inborn errors of metabolism (IEMs), using an automated mass spectrometry-based assay. Urine was compared with plasma samples from a sim...

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Pubblicato in:Genet Test Mol Biomarkers
Autori principali: Kennedy, Adam D., Miller, Marcus J., Beebe, Kirk, Wulff, Jacob E., Evans, Anne M., Miller, Luke A.D., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Mary Ann Liebert, Inc. 2016
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC5314726/
https://ncbi.nlm.nih.gov/pubmed/27448163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/gtmb.2015.0291
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