| 1 | IVA, IVD |
| Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. | |
| Vockley J, Ensenauer R. | |
| Am J Med Genet C Semin Med Genet 142(2):95-103. Review. 2006 | |
| 2 | IVD, IVA |
| A common mutation in IVD associated with asymptomatic isovaleric acidemia: implications for newborn screening. | |
| Brunham L. | |
| Clin Genet 67(3):226-7. No abstract available. 2005 | |
| 3 | IVD, IVA |
| A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. | |
| Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D. | |
| Am J Hum Genet 75(6):1136-42. Epub 2004 Oct 14. 2004 | |