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Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.
Forsyth R, Vockley CW, Edick MJ, Cameron CA, Hiner SJ, Berry SA, Vockley J, Arnold GL; Inborn Errors of Metabolism Collaborative. Forsyth R, et al. Among authors: vockley cw, vockley j. Mol Genet Metab. 2016 May;118(1):15-20. doi: 10.1016/j.ymgme.2016.02.002. Epub 2016 Feb 15. Mol Genet Metab. 2016. PMID: 27033733 Free PMC article.
Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.
Nguyen TV, Andresen BS, Corydon TJ, Ghisla S, Abd-El Razik N, Mohsen AW, Cederbaum SD, Roe DS, Roe CR, Lench NJ, Vockley J. Nguyen TV, et al. Among authors: vockley j. Mol Genet Metab. 2002 Sep-Oct;77(1-2):68-79. doi: 10.1016/s1096-7192(02)00152-x. Mol Genet Metab. 2002. PMID: 12359132
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
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. Ensenauer R, et al. Among authors: vockley j. Am J Hum Genet. 2004 Dec;75(6):1136-42. doi: 10.1086/426318. Epub 2004 Oct 14. Am J Hum Genet. 2004. PMID: 15486829 Free PMC article.
Newborn screening: After the thrill is gone.
Vockley J. Vockley J. Mol Genet Metab. 2007 Sep-Oct;92(1-2):6-12. doi: 10.1016/j.ymgme.2007.05.012. Epub 2007 Jul 2. Mol Genet Metab. 2007. PMID: 17604202 Free PMC article. Review.
362 results