Ait-El-Mkadem S, et al. (2017) Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet 100(1):151-159 PMID:27989324
Mollet J, et al. (2008) CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures. Am J Hum Genet 82(3):623-30 PMID:18319072
Jaquet L, et al. (1995) Allosteric regulation of carbamoylphosphate synthetase-aspartate transcarbamylase multifunctional protein of Saccharomyces cerevisiae: selection, mapping and identification of missense mutations define three regions involved in feedback inhibition by UTP. J Mol Biol 248(3):639-52 PMID:7752230