Isovaleric acidemia
Definition:
References:
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[1]. Jerry Vockley, et al. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):95-103. [Content Brief]
[2]. Regina Ensenauer, 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 Dec;75(6):1136-42. [Content Brief]
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