Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment

Erstveröffentlichung

2023

Authors

Mütze, Ulrike

Henze, Lucy

Schröter, Julian

Gleich, Florian

Lindner, Martin

et al.

Wissenschaftlicher Artikel

Published in

Journal of inherited metabolic disease. - : Wiley, 2023. - ISSN 0141-8955. - eISSN 1573-2665

Link to publication

https://dx.doi.org/10.1002/jimd.12653

Institutions

UKU. Klinik für Kinder- und Jugendmedizin

Subject headings

[Free subject headings]: case definition | isovaleric acidemia | long-term outcome | neonatal screening | prediction | UNCERTAIN SIGNIFICANCE | ACIDEMIA | PATHOGENICITY | VARIANTS
[DDC subject group]: DDC 610 / Medicine & health

Metadata

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