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Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric

Eva Thimm1, Anselma Riederer2, Jerry Vockley3

  • 1Department of General Pediatrics, Neonatology, and Pediatric Cardiology, University Children's Hospital, Faculty of Medicine, Heinrich Heine University Düsseldorf, 40225 Düsseldorf, Germany.

International Journal of Neonatal Screening
|October 24, 2025
PubMed

Keywords:
IVAdisease spectrumexpert opinioninborn error of metabolismisovaleric acidemiaisovaleryl-CoA dehydrogenasenewborn screeningsystematic search and review

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