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Items: 6

1.
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
J Vockley, B Parimoo, K Tanaka
Am J Hum Genet. 1991 Jul; 49(1): 147–157.
PMCID:
PMC1683224
SummaryPage BrowsePDF–1.8M
2.
A Common Mutation Is Associated with a Mild, Potentially Asymptomatic Phenotype in Patients with Isovaleric Acidemia Diagnosed by Newborn Screening
Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans-Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern
Am J Hum Genet. 2004 Dec; 75(6): 1136–1142. Published online 2004 Oct 14. doi: 10.1086/426318
PMCID:
PMC1182150
AbstractArticlePDF–132K
3.
Molecular heterogeneity of variant isovaleryl-CoA dehydrogenase from cultured isovaleric acidemia fibroblasts.
Y Ikeda, S M Keese, K Tanaka
Proc Natl Acad Sci U S A. 1985 Oct; 82(20): 7081–7085. doi: 10.1073/pnas.82.20.7081
PMCID:
PMC391314
SummaryPage BrowsePDF–1.1M
4.
Complementation studies of isovaleric acidemia and glutaric aciduria type II using cultured skin fibroblasts.
B Dubiel, C Dabrowski, R Wetts, K Tanaka
J Clin Invest. 1983 Nov; 72(5): 1543–1552. doi: 10.1172/JCI111113
PMCID:
PMC370442
SummaryPage BrowsePDF–1.2M
5.
Demonstration of a specific mitochondrial isovaleryl-CoA dehydrogenase deficiency in fibroblasts from patients with isovaleric acidemia.
W J Rhead, K Tanaka
Proc Natl Acad Sci U S A. 1980 Jan; 77(1): 580–583. doi: 10.1073/pnas.77.1.580
PMCID:
PMC348317
SummaryPage BrowsePDF–816K
6.
Isovaleric acidemia: a new genetic defect of leucine metabolism.
K Tanaka, M A Budd, M L Efron, K J Isselbacher
Proc Natl Acad Sci U S A. 1966 Jul; 56(1): 236–242. doi: 10.1073/pnas.56.1.236
PMCID:
PMC285701
SummaryPage BrowsePDF–843K

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