Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria

Isovaleric aciduria (IVA) is a rare disorder of leucine metabolism and part of newborn screening (NBS) programs worldwide. However, NBS for IVA is hampered by, first, the increased birth prevalence due to the identification of individuals with an attenuated disease variant (so-called “mild” IVA) and...

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Huvudupphov:	Elaine Zaunseder, Ulrike Mütze, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Vincent Heuveline, Stefan Kölker
Materialtyp:	Artigo
Språk:	Inglês
Utgiven:	MDPI AG 2023-02-01
Serie:	Metabolites
Ämnen:	data analysis artificial intelligence data mining isovaleric acidemia neonatal screening inborn error of metabolism
Länkar:	https://www.mdpi.com/2218-1989/13/2/304
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