Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, GrĂ¼nert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D.
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):1136-42. PubMed abstract / Full Text