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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Detalles Bibliográficos
Autores principales: Zaunseder, Elaine, Mütze, Ulrike, Garbade, Sven F., Haupt, Saskia, Feyh, Patrik, Hoffmann, Georg F., Heuveline, Vincent, Kölker, Stefan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962193/
https://www.ncbi.nlm.nih.gov/pubmed/36837923
http://dx.doi.org/10.3390/metabo13020304

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9962193/
https://www.ncbi.nlm.nih.gov/pubmed/36837923
http://dx.doi.org/10.3390/metabo13020304

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