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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736868/
https://www.ncbi.nlm.nih.gov/pubmed/31506554
http://dx.doi.org/10.1038/s41598-019-49685-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736868/
https://www.ncbi.nlm.nih.gov/pubmed/31506554
http://dx.doi.org/10.1038/s41598-019-49685-x

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