Studies on alcaptonuria: 2. Investigations on a case of human alcaptonuria.
نویسندگان
چکیده
Baumann, E. (1892). Hoppe-Seyl. Z. 16, 268. Blix, G. (1932). Hoppe-Seyl. Z. 210, 87. Briggs, A. P. (1922). J. biol. Chem. 51, 451. Faraday, M. (1857). Philos. Tran8. 147, 145. Garrod, A. E. & Hurtley, W. H. (1905). J. Phy8iol. 33, 206. James, T. H. (1939). J. Amer. chem. Soc. 61, 648. Lieb, H. & Lanyar, F. (1929). Hoppe-Seyl. Z. 181, 199. Medes, G. (1932). Biochem. J. 26, 917. Metz, E. (1927). Biochem. Z. 190, 261. Metz, E. (1930). Hoppe-Seyl. Z. 193, 46. Neuberger, A., Rimington, C. & Wilson, J. M. (1947). Biochem. J. 4i, 438. Neuberger, A. & Webster, T. A. (1947). Biochem. J. 41, 449. Sealock, R. R. & Silberstein, H. E. (1940). J. biol. Chem. 135, 251. Snell, J. M. & Weissberger, A. (1939). J. Amer. chem. Soc. 61, 450. Voigt, H. & Heumann, J. (1928). Z. anorg. Chem. 169, 140. Wieland, H. (1910). Ber. dt8ch. chem. Gme. 43, 710.
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ورودعنوان ژورنال:
- The Biochemical journal
دوره 41 3 شماره
صفحات -
تاریخ انتشار 1947