PhenomeGene — Human Disease Gene Website SeriesIVD

Publications

Vockley J et al. Identification of the molecular defects responsible for the various genotypes of isovaleric acidemia.Prog Clin Biol Res, 1992. 375: p. 533–40. PMID: 1438397.

Ensenauer R et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.Am J Hum Genet, 2004. 75(6): p. 1136–42. PMID: 15486829.

Vockley J and Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.Am J Med Genet C Semin Med Genet, 2006. 142C(2): p. 95–103. PMID: 16602101.

Lee YW et al. Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia. Mol Genet Metab, 2007. 92(1-2): p. 71–7. PMID: 17576084.

D'Annibale OM et al. Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.Mol Genet Metab, 2021. 134(1-2): p. 29–36. PMID: 34535384. 

Thimm E et al. Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.International Journal of Neonatal Screening, 2025. 11(4). PMID: 41133704.