• Duley, J.A., Christodoulou, J. & de Brouwer, A.P. (2011) The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes? Nucleosides Nucleotides Nucleic Acids 30, 11291139.
  • de Gruchy, G.C. & R Grimes, A.J. (1972) The nonspherocytic congenital haemolytic anaemias. Br. J. Haematol. 23, 1926.
  • Haas, A.L. & Sabina, R.L. (2003) N-terminal extensions of the human AMPD2 polypeptide influence ATP regulation of isoform L. Biochem. Biophys. Res. Commun. 305, 421427.
  • Hellsten, Y., Richter, E.A., Kiens, B. & Bangsbo, J. (1999) AMP deamination and purine exchange in human skeletal muscle during and after intense exercise. J. Physiol., 520 (Pt 3), 909920.
  • Imamura, D. & Tanaka, T. (1972) Multimolecular forms of pyruvate kinase from rat and other mammalian tissues. J. Biochem. 71, 10431051.
  • Jain, S.K. (1989) Hyperglycemia can cause membrane lipid peroxidation and osmotic fragility in human red blood cells. J. Biol. Chem. 264, 2134021345.
  • Miwa, S., Kanno, H. & Fujii, H. (1993) Pyruvate kinase deficiency: Historical perspective and recent progress of molecular genetics. Am. J. Hematol. 42, 3135.
  • Morisaki, T., Gross, M., Morisaki, H., Pongratz, D., Zoellner, N. & Holmes, E.W. (1992) Molecular basis of AMP deaminase deficiency in skeletal muscle. Proc. Natl Acad. Sci. USA 89, 64576461.
  • Norman, B., Hellsten-Westing, Y., Sjödin, B. & Jansson, E. (1994) AMP deaminase in skeletal muscle of healthy males quantitatively determined by new assay. Acta Physiol. Scand. 150, 397403.
  • Ogasawara, N., Goto, H., Watanabe, T., Kawamura, Y. & Yoshino, M. (1974) Multiple forms of AMP deaminase in various rat tissues. FEBS Lett. 44, 6366.
  • Ogasawara, N., Goto, H., Yamada, Y., Nishigaki, I., Itoh, T. & Hasegawa, I. (1984) Complete deficiency of AMP deaminase in human erythrocytes. Biochem. Biophys. Res. Commun. 122, 13441349.
  • Ogasawara, N., Goto, H., Yamada, Y., Nishigaki, I., Itoh, T., Hasegawa, I. & Park, K.S. (1987) Deficiency of AMP deaminase in erythrocytes. Hum. Genet. 75, 1518.
  • Ogasawara, N., Goto, H., Yamada, Y., Watanabe, T. & Asano, T. (1982) AMP deaminase isozymes in human tissues. Biochim. Biophys. Acta 714, 298306.
  • Qiu, F.H., Wada, K., Stahl, G.L. & Serhan, C.N. (2000) IMP and AMP deaminase in reperfusion injury down-regulates neutrophil recruitment. Proc. Natl Acad. Sci. USA 97, 42674272.
  • Sabina, R.L. & Holmes, E.W. (2001) Myoadenylate deaminase deficiency. In: The Metabolic and Molecular Bases of Inherited Disease, 8th edn. (eds C.R. Scriver, A.L. Beauder, W.S. Sly & D. Valle), pp. 26272638. New York: McGraw-Hill.
  • Sermsuvitayawong, K., Wang, X., Nagabukuro, A., Matsuda, Y., Morisaki, H., Toyama, K., Mukai, T. & Morisaki, T. (1997) Genomic organization of Ampd3, heart-type AMPD gene, located in mouse chromosome 7. Mamm. Genome 8, 767769.
  • Szydlowska, M., Chodorowski, Z., Rybakowska, I., Nagel-Starczynowska, G. & Kaletha, K. (2004) Full-size form of human liver AMP-deaminase? Mol. Cell. Biochem. 266, 133137.
  • Tani, K., Yoshikubo, T., Ikebuchi, K., Takahashi, K., Tsuchiya, T., Takahashi, S., Shimane, M., Ogura, H., Tojo, A., Ozawa, K., Takahara, Y., Nakauchi, H., Markowitz, D., Bank, A. & Asano, S. (1994) Retrovirus-mediated gene transfer of human pyruvate kinase (PK) cDNA into murine hematopoietic cells: implications for gene therapy of human PK deficiency. Blood 83, 23052210.
  • Tavazzi, B., Di Pierro, D., Amorini, A.M., Fazzina, G., Tuttobene, M., Giardina, B. & Lazzarino, G. (2000) Energy metabolism and lipid peroxidation of human erythrocytes as a function of increased oxidative stress. Eur. J. Biochem. 267, 684689.
  • Torres, R.J., Mateos, F.A., Puig, J.G. & Becker, M.A. (1994) A simplified method for the determination of phosphoribosylpyrophosphate synthetase activity in hemolysates. Clin. Chim. Acta 224, 5563.
  • Tsujino, K., Kanno, H., Hashimoto, K., Fujii, H., Jippo, T., Morii, E., Lee, Y.-M., Asai, H., Miwa, S. & Kitamura, Y. (1998) Delayed onset of hemolytic anemia in CBA-Pk-1slc/Pk-1slc mice with a point mutation of the gene encoding red blood cell type pyruvate kinase. Blood 91, 21692174.
  • Valentine, W.N., Anderson, H.M., Paglia, D.E., Jaffé, E.R., Konrad, P.N. & Harris, S.R. (1972) Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C. deficiency. Blood 39, 674684.
  • Wang, X., Morisaki, H., Sermsuvitayawong, K., Mineo, I., Toyama, K., Ogasawara, N., Mukai, T. & Morisaki, T. (1997) Cloning and expression of cDNA encoding heart-type isoform of AMP deaminase. Gene 188, 285290.
  • Yamada, Y., Goto, H., Murase, T. & Ogasawara, N. (1994b) Molecular basis for human erythrocyte AMP deaminase deficiency: screening for the major point mutation and identification of other mutations. Hum. Mol. Genet. 3, 22432245.
  • Yamada, Y., Goto, H. & Ogasawara, N. (1994a) A point mutation responsible for human erythrocyte AMP deaminase deficiency. Hum. Mol. Genet. 3, 331334.