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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Detalhes bibliográficos

Principais autores:	Elaine Zaunseder, Ulrike Mütze, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Vincent Heuveline, Stefan Kölker
Formato:	Artigo
Idioma:	Inglês
Publicado em:	MDPI AG 2023-02-01
coleção:	Metabolites
Assuntos:	data analysis artificial intelligence data mining isovaleric acidemia neonatal screening inborn error of metabolism
Acesso em linha:	https://www.mdpi.com/2218-1989/13/2/304
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