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MeSH Review

Citrullinemia

 
 
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Disease relevance of Citrullinemia

 

High impact information on Citrullinemia

 

Chemical compound and disease context of Citrullinemia

 

Biological context of Citrullinemia

 

Anatomical context of Citrullinemia

 

Gene context of Citrullinemia

 

Analytical, diagnostic and therapeutic context of Citrullinemia

References

  1. Hepatocyte gene therapy in a large animal: a neonatal bovine model of citrullinemia. Lee, B., Dennis, J.A., Healy, P.J., Mull, B., Pastore, L., Yu, H., Aguilar-Cordova, E., O'Brien, W., Reeds, P., Beaudet, A.L. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  2. Substrate induced conformational changes in argininosuccinate synthetase. Lemke, C.T., Howell, P.L. J. Biol. Chem. (2002) [Pubmed]
  3. A neonatal screening test for argininosuccinic acid lyase deficiency and other urea cycle disorders. Talbot, H.W., Sumlin, A.B., Naylor, E.W., Guthrie, R. Pediatrics (1982) [Pubmed]
  4. Surface-activated chemical ionization in the analysis of arginine in plasma samples. Cristoni, S., Cantù, M., Bernardi, L.R., Gerthoux, P., Gonella, E., Brambilla, M., Cavalca, V., Zingaro, L., Guidugli, F. Rapid Commun. Mass Spectrom. (2005) [Pubmed]
  5. Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency: case reports from 16 patients. Tazawa, Y., Kobayashi, K., Abukawa, D., Nagata, I., Maisawa, S., Sumazaki, R., Iizuka, T., Hosoda, Y., Okamoto, M., Murakami, J., Kaji, S., Tabata, A., Lu, Y.B., Sakamoto, O., Matsui, A., Kanzaki, S., Takada, G., Saheki, T., Iinuma, K., Ohura, T. Mol. Genet. Metab. (2004) [Pubmed]
  6. Molecular analysis of argininosuccinate synthetase deficiency in human fibroblasts. Su, T.S., Bock, H.G., Beaudet, A.L., O'Brien, W.E. J. Clin. Invest. (1982) [Pubmed]
  7. Citrin and aralar1 are Ca(2+)-stimulated aspartate/glutamate transporters in mitochondria. Palmieri, L., Pardo, B., Lasorsa, F.M., del Arco, A., Kobayashi, K., Iijima, M., Runswick, M.J., Walker, J.E., Saheki, T., Satrústegui, J., Palmieri, F. EMBO J. (2001) [Pubmed]
  8. Molecular definition of bovine argininosuccinate synthetase deficiency. Dennis, J.A., Healy, P.J., Beaudet, A.L., O'Brien, W.E. Proc. Natl. Acad. Sci. U.S.A. (1989) [Pubmed]
  9. Citrullinemia: prenatal diagnosis of an affected fetus. Fleisher, L.D., Harris, C.J., Mitchell, D.A., Nadler, H.L. Am. J. Hum. Genet. (1983) [Pubmed]
  10. Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia. Sinasac, D.S., Moriyama, M., Jalil, M.A., Begum, L., Li, M.X., Iijima, M., Horiuchi, M., Robinson, B.H., Kobayashi, K., Saheki, T., Tsui, L.C. Mol. Cell. Biol. (2004) [Pubmed]
  11. A pediatric patient with classical citrullinemia who underwent living-related partial liver transplantation. Ban, K., Sugiyama, N., Sugiyama, K., Wada, Y., Suzuki, T., Hashimoto, T., Kobayashi, K. Transplantation (2001) [Pubmed]
  12. Lysine intolerance in a variant form of citrullinemia. Matsuda, I., Arashima, S., Imanishi, Y., Yamamoto, J., Akaboshi, I., Shinozuka, S., Nagata, N. Pediatr. Res. (1979) [Pubmed]
  13. Citrulline: a physiologic marker enabling quantitation and monitoring of epithelial radiation-induced small bowel damage. Lutgens, L.C., Deutz, N.E., Gueulette, J., Cleutjens, J.P., Berger, M.P., Wouters, B.G., von Meyenfeldt, M.F., Lambin, P. Int. J. Radiat. Oncol. Biol. Phys. (2003) [Pubmed]
  14. Prospective management of a child with neonatal citrullinemia. Melnyk, A.R., Matalon, R., Henry, B.W., Zeller, W.P., Lange, C. J. Pediatr. (1993) [Pubmed]
  15. Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes. Isashiki, Y., Ohba, N., Uto, M., Nakagawa, M. Jpn. J. Ophthalmol. (1993) [Pubmed]
  16. Additional mutations in argininosuccinate synthetase causing citrullinemia. Kobayashi, K., Rosenbloom, C., Beaudet, A.L., O'Brien, W.E. Mol. Biol. Med. (1991) [Pubmed]
  17. Citrullinemia: enzymatic evidence for genetic heterogeneity. Kennaway, N.G., Harwood, P.J., Ramberg, D.A., Koler, R.D., Buist, N.R. Pediatr. Res. (1975) [Pubmed]
  18. Improving the prenatal diagnosis of citrullinemia using citrulline/ornithine+arginine ratio in amniotic fluid. Chadefaux-Vekemans, B., Rabier, D., Chabli, A., Blanc, A., Aupetit, J., Bardet, J., Kamoun, P. Prenat. Diagn. (2002) [Pubmed]
  19. Variation in argininosuccinate synthetase activity in amniotic fluid cell cultures: implications for prenatal diagnosis of citrullinemia. Jacoby, L.B., Shih, V.E., Struckmeyer, C., Niermeijer, M.F., Boué, J. Clin. Chim. Acta (1981) [Pubmed]
  20. Argininosuccinate synthetase activity in cultured human lymphocytes. Lockridge, O., Spector, E.B., Bloom, A.D. Biochem. Genet. (1977) [Pubmed]
  21. Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice. Moriyama, M., Li, M.X., Kobayashi, K., Sinasac, D.S., Kannan, Y., Iijima, M., Horiuchi, M., Tsui, L.C., Tanaka, M., Nakamura, Y., Saheki, T. J. Hepatol. (2006) [Pubmed]
  22. Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. Kobayashi, K., Shaheen, N., Terazono, H., Saheki, T. Am. J. Hum. Genet. (1994) [Pubmed]
  23. Genomic structure of the adult-onset type II citrullinemia gene, SLC25A13, and cloning and expression of its mouse homologue. Sinasac, D.S., Crackower, M.A., Lee, J.R., Kobayashi, K., Saheki, T., Scherer, S.W., Tsui, L.C. Genomics (1999) [Pubmed]
  24. Messenger RNA coding for argininosuccinate synthetase in citrullinemia. Kobayashi, K., Saheki, T., Imamura, Y., Noda, T., Inoue, I., Matuo, S., Hagihara, S., Nomiyama, H., Jinno, Y., Shimada, K. Am. J. Hum. Genet. (1986) [Pubmed]
  25. Animal model of human disease. Citrullinemia (argininosuccinate synthetase deficiency). Harper, P.A., Healy, P.J., Dennis, J.A. Am. J. Pathol. (1989) [Pubmed]
 
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