| 1 | IVA, IVD
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| Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
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| Vockley J, Ensenauer R.
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| Am J Med Genet C Semin Med Genet 142(2):95-103. Review. 2006
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| 2 | IVD, IVA
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| A common mutation in IVD associated with asymptomatic isovaleric acidemia: implications for newborn screening.
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| Brunham L.
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| Clin Genet 67(3):226-7. No abstract available. 2005
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| 3 | IVD, IVA
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| A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
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| Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, Burton BK, Berry SA, Santer R, Grunert S, Koch HG, Marquardt I, Rinaldo P, Hahn S, Matern D.
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| Am J Hum Genet 75(6):1136-42. Epub 2004 Oct 14. 2004
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| 4 | IVD
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| Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
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| Vockley J, Rogan PK, Anderson BD, Willard J, Seelan RS, Smith DI, Liu W.
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| Am J Hum Genet 66(2):356-67. 2000
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| 5 | IVD
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| The variant human isovaleryl-CoA dehydrogenase gene responsible for type II isovaleric acidemia determines an RNA splicing error, leading to the deletion of the entire second coding exon and the production of a truncated precursor protein that interacts poorly with mitochondrial import receptors.
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| Vockley J, et al.
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| J Biol Chem 267 : 2494-2501. 1992
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| 6 | IVD
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| Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
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| Vockley J, et al.
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| Am J Hum Genet 49 : 147-157. 1991
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| 7 | IVD
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| Characterization of a mitochondrial processing (type II) mutation of isovaleryl-CoA dehydrogenase (IVD) responsible for isovaleric acidemia (IVA).
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| Nagao M, et al.
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| Am J Hum Genet 49S : 102. 1991
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| 8 | IVD
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| The gene for isovaleryl-CoA dehydrogenase mapped to chromosome 15, region q14-q15.
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| Barton DE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 578. 1987
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| 9 | IVD
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| Isolation of cDNA clones coding for rat isovaleryl-CoA dehydrogenase and assignment of the gene to human chromosome 15.
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| Kraus JP, et al.
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| Genomics 1 : 264-269. 1987
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| 10 | IVD
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| Une observation d'acidŽmie isovalŽrique.
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| Guibaud P, et al.
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| Arch Fr Pediatr 30 : 633-645. 1973
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| 11 | IVD
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| Isovaleric acidemia. Clinical features of a new genetic defect of leucine metabolism.
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| Budd MA, et al.
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| N Engl J Med 277 : 321-327. 1967
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| 12 | IVD
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| Isovaleric acidemia : a new genetic defect of leucine metabolism.
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| Tanaka K, et al.
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| Proc Natl Acad Sci U S A 56 : 236-240. 1966
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