UROC1

Publications

Glinton KE et al. Untargeted metabolomics identifies unique though benign biochemical changes in patients with pathogenic variants in UROC1. Mol Genet Metab Rep. 2018;18:14-18.  PMID: 30619714

Espinós C et al. Mutations in the urocanase gene UROC1 are associated with urocanic aciduria. J Med Genet. 2009;46(6):407-11.  PMID: 19304569

Yoshida T et al. Urocanic aciduria: a defect in the urocanase activity in the liver of a mentally retarded. Tohoku J Exp Med 1971;104(4):305-12.  PMID: 5124677

Kalafatic Z et al. A liver urocanase deficiency. Metabolism 1980;29(11):1013-19.  PMID: 6107814