Associated Papers
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Vockley J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R et al.
American Journal of Human Genetics, 2004
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