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Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan

1985; Springer Science+Business Media; Volume: 8; Issue: 3 Linguagem: Inglês

10.1007/bf01819306

1573-2665

Takeyori Saheki, K. Nakano, K. Kobayashi, Yasushi Imamura, Yoshihiro Itakura, Mariko Sase, Sumio Hagihara, Seiji Matuo,

Folate and B Vitamins Research

Journal of Inherited Metabolic DiseaseVolume 8, Issue 3 p. 155-156 JSIMD Meeting Analysis of the enzyme abnormality in eight cases of neonatal and infantile citrullinaemia in Japan T. Saheki, T. Saheki Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 Japan Department of Nutritional Biochemistry, Kagoshima Women's Junior College, Kagoshima, Japan Department of Pediatrics, Sapporo Medical College, Sapporo, JapanSearch for more papers by this authorK. Nakano, K. Nakano Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorK. Kobayashi, K. Kobayashi Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorY. Imamura, Y. Imamura Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorY. Itakura, Y. Itakura Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 Japan Department of Nutritional Biochemistry, Kagoshima Women's Junior College, Kagoshima, Japan Department of Pediatrics, Sapporo Medical College, Sapporo, JapanSearch for more papers by this authorM. Sase, M. Sase Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorS. Hagihara, S. Hagihara Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorS. Matuo, S. Matuo Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this author T. Saheki, T. Saheki Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 Japan Department of Nutritional Biochemistry, Kagoshima Women's Junior College, Kagoshima, Japan Department of Pediatrics, Sapporo Medical College, Sapporo, JapanSearch for more papers by this authorK. Nakano, K. Nakano Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorK. Kobayashi, K. Kobayashi Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorY. Imamura, Y. Imamura Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorY. Itakura, Y. Itakura Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 Japan Department of Nutritional Biochemistry, Kagoshima Women's Junior College, Kagoshima, Japan Department of Pediatrics, Sapporo Medical College, Sapporo, JapanSearch for more papers by this authorM. Sase, M. Sase Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorS. Hagihara, S. Hagihara Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this authorS. Matuo, S. Matuo Department of Biochemistry, School of Medicine, Kagoshima University, Usuki-cho 1208-1, Kagoshima, 890 JapanSearch for more papers by this author First published: 01 September 1985 https://doi.org/10.1007/BF01819306Citations: 29AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1McMurray W. C., Mohyuddin F., Rossiter R. J., Rathbun C., Valentine G. H., Koegler S. J., Zarfas D. E. (1962) Citrullinaemia, a new amino aciduria associated with mental retardation. Lancet, 1: 138. 2Mori M., Miura S., Tatibana M., Cohen P. P. (1981) Cell-free translation of carbamyl phosphate synthetase I and ornithine transcarbamylase messenger RNAs of rat liver. Effect of dietary protein and fasting on translatable mRNA levels. J. Biol. Chem., 256: 4127–4132. 3Mori M., Morris S. M., Cohen P. P. (1979) Cell-free translation and thyroxine induction of carbamylphosphate synthetase I messenger RNA in tadpole liver. Proc. Natl. Acad. Sci. USA, 76: 3179–3183. 4Saheki T., Ueda A., Hosoya M., Sase M., Nakano K., Katsunuma T., Lowenthal A., Mori A., Marescau B. (1983) Enzymatic analysis of citrullinemia (12 cases) in Japan. In: Urea Cycle Diseases, New York: Plenum Press, 63–76. 5Saheki T., Ueda A., Hosoya M., Takada S., Tsuda M., Katsunuma T. (1981) Qualitative and quantitative abnormalities of argininosuccinate synthetase in citrullinemia. Clin. Chim. Acta, 109: 325–335. 6Saheki T., Ueda A., Iizima K., Yamada N., Kobayashi K., Takahashi K., Katsunuma T. (1982) Argininosuccinate synthetase activity in cultured skin fibroblasts of citrullinemic patients. Clin. Chim. Acta, 118: 93–97. 7Sargent T. D., Dawid I. B. (1983) Differential gene expression in the gastrula ofXenopus laevis. Science, 222: 135–139. 8Sase M., Kobayashi K., Imamura Y., Saheki T., Nakano K., Miura S., Mori M. (1985) Level of translatable messenger RNA coding for argininosuccinate synthetase in the liver of the patients with quantitative-type citrullinemia. Hum. Genet., 69: 130–134. 9Thomas P. S. (1980) Hybridization of denatured RNA and small DNA fragments transferred to nitrocellulose. Proc. Natl. Acad. Sci. USA, 77: 5201–5205. 10Yoshitake S., Imagawa M., Ishikawa E. (1982) Efficient preparation of rabbit Fab′-horseradish peroxidase conjugates using maleimide compounds and its use for enzyme immunoassay. Analyt. Lett., 15: 147–160. Citing Literature Volume8, Issue3September 1985Pages 155-156 ReferencesRelatedInformation