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16

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mentioning

4

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• Barden, R.E., Taylor, B.L., Isohashi, F., Frey, W.H., Zander, G., Lee, J.C., Utter, M.F. (1975). Structural properties of pyruvate carboxylases from chicken liver and other sources, Proc. Nat. Acad. Sci. USA, 72, 4308-4312.
• Brunette, M.G., Delvin, E., Hazel, B., Scriver, C.R. (1972). Thiamine-responsive lactic acidosis in a patient with deficient low-Km pyruvate carboxylase activity in liver, Pediatrics, 50, 702-711.
• DiMauro, S., Servidei, S., Zeviani, M., DiRocco, M., De Vivo, D.C., DiDonato, S., Uziel, G., Berry, K., Hoganson, G., Johnsen, S.D. (1987). Cytochrome c oxidase deficiency in Leigh syndrome, Ann. Neurol., 22, 498-506.
• De Vivo, D.C., Haymond, M.W., Leckie, M.P., Bussman, Y.L., Pagliara, A.S. (1977). The clinical and biochemical implications of pyruvate carboxylase deficiency, J. Clin. Endocrinol. Metab., 45, 1281-1296.
• Greter, J., Gustafsson, J., Holme, E. (1985). Pyruvate carboxylase deficiency with urea cycle impairment, Acta Paediatr. Scand., 74, 982-986.
• MacKay, N., Rigat, D.C., Chen, H.S., Robinson, B.H. (1994). cDNA cloning of human kidney pyruvate carboxylase, Biochem. Biophys. Res. Commun., 202, 1009-1014.
• Marsac, C., Augereau, Ch., Feldman, G., Wolf, B., Hansen, T.L., Berger, R. (1982). Prenatal diagnosis of pyruvate carboxylase deficiency. Clin. Chim. Acta, 119, 121-127.
• Robinson, B.H., Toone, J.R., Petrova Benedict, R., Dimmick, J.E., Oei, J., Applegarth, D.A. (1985). Prenatal diagnosis of pyruvate carboxylase deficiency, Prenat. Diagn., 5, 67-71.
• Saudubray, J.M., Marsac, C., Charpentier, C., Cathelineau, L., Besson Leaud, M., Leroux, J.P. (1976). Neonatal congenital lactic acidosis with pyruvate carboxylase deficiency in two siblings, Acta Paediatr. Scand., 65, 717-724.
• Van Coster, R.N., Fernhoff, P.M., De Vivo, D.C. (1991). Pyruvate carboxylase deficiency: a benign variant with normal development, Pediat. Res., 30, 1-4.
• Wexler, I.D., Yuefen, D., Higgins, J.J., Stephenson, W., Kaung, M.M., Lusk, M.M., Kerr, D.S. (1997). Pyruvate carboxylase deficiency: characterization of mutations in two families. Abstracts of the 7th International Congress of Inborn Errors of Metabolism, Vienna, 86.