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Untargeted Metabolomic Profiling Reveals Multiple Pathway Perturbations and New Clinical Biomarkers in Urea Cycle Disorders

PURPOSE: Untargeted metabolomic analysis is increasingly being used in the screening and management of individuals with inborn errors of metabolism (IEM). We aimed to test whether untargeted metabolomic analysis in plasma might be useful for monitoring the disease course and management of urea cycle...

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Detalhes bibliográficos
Publicado no:Genet Med
Main Authors: Burrage, Lindsay C., Thistlethwaite, Lillian, Stroup, Bridget M., Sun, Qin, Miller, Marcus J., Nagamani, Sandesh CS, Craigen, William, Scaglia, Fernando, Sutton, V. Reid, Graham, Brett, Kennedy, Adam D., Milosavljevic, Aleksandar, Lee, Brendan H., Elsea, Sarah H.
Formato: Artigo
Idioma:Inglês
Publicado em: 2019
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6650380/
https://ncbi.nlm.nih.gov/pubmed/30670878
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0442-0
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