Browsing by Author "Asla Elorriaga, Izaskun"
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NMR-based newborn urine screening for optimized detection of inherited errors of metabolism
Embade, Nieves; Cannet, Claire; Diercks, Tammo; Gil Redondo, Rubén; Bruzzone, Chiara; Ansó Olivan, Sara; Román Echevarría, Lourdes; Martínez Ayucar, María De Las Mercedes; Collazos, Laura; Lodoso, Blanca; Guerra, Eneritz; Asla Elorriaga, Izaskun; Kortajarena, Miguel Ángel; Pérez Legorburu, Alberto; Fang, Fang; Astigarraga Aguirre, María Iciar; Schaefer, Hartmut; Spraul, Manfred; Millet Aguilar-Galindo, Oscar (Nature Publishing, 2019-09-10)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 ...