Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

doi:10.1002/jimd.12364

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Article

Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.

Journal of inherited metabolic disease - 1 Jul 2021

Mütze Ulrike, Henze Lucy, Gleich Florian, Lindner Martin, Grünert Sarah C, Spiekerkoetter Ute, Santer René, Blessing Holger, Thimm Eva, Ensenauer Regina, Weigel Johannes, Beblo Skadi, Arélin Maria, Hennermann Julia B, Marquardt Thorsten, Marquardt Iris, Freisinger Peter, Krämer Johannes, Dieckmann Andrea, Weinhold Natalie, Keller Mareike, Walter Magdalena, Schiergens Katharina A, Maier Esther M, Hoffmann Georg F, Garbade Sven F, Kölker Stefan

Abstract excerpt

Isovaleric aciduria (IVA), a metabolic disease with severe (classic IVA) or attenuated phenotype (mild IVA), is included in newborn screening (NBS) programs worldwide. The long-term clinical benefit of screened individuals, however, is still rarely investigated. A national, prospective, observational, multi-center study of individuals with confirmed IVA identified by NBS between 1998 and 2018 was conducted....

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PMID: 33496032
DOI: 10.1002/jimd.12364

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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