Ontology highlight
ABSTRACT:
SUBMITTER: Embade N
PROVIDER: S-EPMC6736868 | biostudies-other | 2019 Sep
REPOSITORIES: biostudies-other
Embade Nieves N Cannet Claire C Diercks Tammo T Gil-Redondo Rubén R Bruzzone Chiara C Ansó Sara S Echevarría Lourdes Román LR Ayucar M Mercedes Martinez MMM Collazos Laura L Lodoso Blanca B Guerra Eneritz E Elorriaga Izaskun Asla IA Kortajarena Miguel Ángel MÁ Legorburu Alberto Pérez AP Fang Fang F Astigarraga Itziar I Schäfer Hartmut H Spraul Manfred M Millet Oscar O
Scientific reports 20190910 1
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 powerful tool for IEM detection in newborns, children, and adults with late onset. In here, we screened urine samples from a large set of neonates (470 individuals) from a homogeneous population (Basque ...[more]