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Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grünert 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 Dec;75(6):1136-42. Epub 2004 Oct 14.
Lin WD, Wang CH, Lee CC, Lai CC, Tsai Y, Tsai FJ. Genetic mutation profile of isovaleric acidemia patients in Taiwan. Mol Genet Metab. 2007 Feb;90(2):134-9. Epub 2006 Oct 4.
Mohsen AW, Anderson BD, Volchenboum SL, Battaile KP, Tiffany K, Roberts D, Kim JJ, Vockley J. Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia. Biochemistry. 1998 Jul 14;37(28):10325-35.
Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W. Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene. Am J Hum Genet. 2000 Feb;66(2):356-67.
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Published: March 4, 2014
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