Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Int J Neonatal Screen · 2025 · PMC12551068 · PMID 41133704

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An analysis of 24 patients with classic IVA showed a trend towards lower neonatal mortality of 3.8% when diagnosed by NBS [ 18 ] compared with a cohort of 155 clinically diagnosed patients (mortality 18.7%) [ 28 ]. 3.1.4.

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