Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate‐Generating Antibiotics Contributed to False C5‐Carnitine Positivity in a Chinese Population

ABSTRACT Background Newborn screening (NBS) for isovaleric acidemia (IVA) is implemented via tandem mass spectrometry (MS/MS), but false‐positive results are still common. In addition, NBS for IVA is limited by a lack of suitable biomarkers, especially after the use of pivaloylester‐containing antib...

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Bibliografische Detailangaben

Hauptverfasser:	Wei Zhou, Ting Huang, Huizhong Li, Maosheng Gu
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	Wiley 2024-11-01
Schriftenreihe:	Molecular Genetics & Genomic Medicine
Schlagworte:	isovaleric acidemia pivalate‐generating antibiotics second‐tier screening
Online-Zugang:	https://doi.org/10.1002/mgg3.70034
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