Hereditäre Enzymdefekte des Erythrocyten: Expressivität und molekulare Heterogenität anomaler Enzymproteine

作者: K. G. Blume , H. Arnold , G. W. Löhr

DOI: 10.1007/978-3-642-65879-2_2

关键词:

摘要: After standardized methods for biochemical characterization of glucose-6-phosphate dehydrogenase have become available, more than hundred different genetic variants this enzyme been reported. Similar conditions may be assumed the relatively rare deficiencies Embden-Meyerhof pathway. On basis experimental data variability anomalous gene products is demonstrated glucosephosphate isomerase and pyruvate kinase.

参考文章(75)
HERBERT S. BOWMAN, Hereditary Non-spherocytic Hemolytic Anemia of the Pyruvate-kinase Deficient Type Annals of Internal Medicine. ,vol. 58, pp. 567- 591 ,(1963) , 10.7326/0003-4819-58-4-567
Robert D. Koler, Patricia Vanbellinghen, The mechanism of precursor modulation of human pyruvate kinase I by fructose diphosphate. Advances in Enzyme Regulation. ,vol. 6, pp. 127- 142 ,(1968) , 10.1016/0065-2571(68)90010-1
P Cartier, A Najman, J.P Leroux, H Temkine, Les anomalies de la glycolyse au cours de l'anémie hémolytique par déficit du globule rouge en pyruvate kinase Clinica Chimica Acta. ,vol. 22, pp. 165- 181 ,(1968) , 10.1016/0009-8981(68)90354-9
H. Niessner, E. Beutler, Fluorometric analysts of glycolytic intermediates in human red blood cells. Biochemical Medicine. ,vol. 8, pp. 123- 134 ,(1973) , 10.1016/0006-2944(73)90016-1
R. H. Bigley, R. D. Koler, Liver pyruvate kinase (PK) isozymes in a PK‐deficient patient* Annals of Human Genetics. ,vol. 31, pp. 383- 388 ,(1968) , 10.1111/J.1469-1809.1968.TB00571.X
G.E.J. Staal, J.F. Kostler, L. Van Milligen-Boersma, Some properties of abnormal red blood cell pyruvate kinase. Biochimica et Biophysica Acta. ,vol. 220, pp. 613- 616 ,(1970) , 10.1016/0005-2744(70)90293-7
R. H. Fung, Y. K. Keung, G. S. Chung, Screening of pyruvate kinase deficiency and G6PD deficiency in Chinese newborn in Hong Kong. Archives of Disease in Childhood. ,vol. 44, pp. 373- 376 ,(1969) , 10.1136/ADC.44.235.373
N. J. Brandt, H. K. Hanel, Atypical pyruvate kinase in a patient with haemolytic anaemia. Scandinavian Journal of Haematology. ,vol. 8, pp. 126- 133 ,(2009) , 10.1111/J.1600-0609.1971.TB01963.X
D.Michael Payne, David W. Porter, R.W. Gracy, Evidence against the occurrence of tissue-specific variants and isoenzymes of phosphoglucose isomerase. Archives of Biochemistry and Biophysics. ,vol. 151, pp. 122- 127 ,(1972) , 10.1016/0003-9861(72)90480-8
G.E.J. Staal, J.F. Koster, J.G. Nijessen, A new variant of red blood cell pyruvate kinase deficiency. Biochimica et Biophysica Acta. ,vol. 258, pp. 685- 687 ,(1972) , 10.1016/0005-2744(72)90262-8