NMR-based newborn urine screening for optimized detection of inherited errors of metabolism

Inborn errors of metabolism (IEMs) are rare diseases produced by the accumulation of abnormal amounts of metabolites, toxic to the newborn. When not detected on time, they can lead to irreversible physiological and psychological sequels or even demise. Metabolomics has emerged as an efficient and po...

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Publicado no:Sci Rep
Main Authors: Embade, Nieves, Cannet, Claire, Diercks, Tammo, Gil-Redondo, Rubén, Bruzzone, Chiara, Ansó, Sara, Echevarría, Lourdes Román, Ayucar, M. Mercedes Martinez, Collazos, Laura, Lodoso, Blanca, Guerra, Eneritz, Elorriaga, Izaskun Asla, Kortajarena, Miguel Ángel, Legorburu, Alberto Pérez, Fang, Fang, Astigarraga, Itziar, Schäfer, Hartmut, Spraul, Manfred, Millet, Oscar
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2019
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736868/
https://ncbi.nlm.nih.gov/pubmed/31506554
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-019-49685-x
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