Machine Learning Methods Improve Specificity in Newborn Screening for Isovaleric Aciduria

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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Bibliographic Details
Main Authors: Elaine Zaunseder, Ulrike Mütze, Sven F. Garbade, Saskia Haupt, Patrik Feyh, Georg F. Hoffmann, Vincent Heuveline, Stefan Kölker
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:Metabolites
Subjects:
data analysis
artificial intelligence
data mining
isovaleric acidemia
neonatal screening
inborn error of metabolism
Online Access:https://www.mdpi.com/2218-1989/13/2/304

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