A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn ScreeningRegina Ensenauer, Dietrich Matern, Jörn Oliver Sass et al.|The American Journal of Human Genetics|2004Cited by 167
Expanded newborn screening identifies maternal primary carnitine deficiencyLisa A. Schimmenti, Nicola Longo, Eric Crombez et al.|Molecular Genetics and Metabolism|2006Cited by 93