Advanced search
Publication Cover
Scandinavian Journal of Clinical and Laboratory Investigation Volume 39, 1979 - Issue 8
Submit an article Journal homepage
6
Views
21
CrossRef citations to date
0
Altmetric
Original

Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia established by two independent methods of assay

H. Joenje Institute of Human Genetics, Free University, Amsterdam, The Netherlands
,
R. R. Frants Institute of Human Genetics, Free University, Amsterdam, The Netherlands
,
F. Arwert Institute of Human Genetics, Free University, Amsterdam, The Netherlands
,
G. J. M. De Bruin Institute of Human Genetics, Free University, Amsterdam, The Netherlands
,
P. J. Kostense Institute of Human Genetics, Free University, Amsterdam, The Netherlands
,
J. J. P. Van De Kamp Department of Pediatrics, University Hospital, Leiden, The Netherlands
,
J. De Koningf Department of Pediatrics, University Hospital, Leiden, The Netherlands
&
A. W. Eriksson Folkhälsan Institute of Genetics, Population Genetics Unit, Helsinki, Finland
 show all
Pages 759-764 | Received 26 Feb 1979, Accepted 10 May 1979, Published online: 14 Feb 2011

References

  • Abeliovich D., Cohen M. M. Normal activity of nucleoside phosphorylase, superoxide dismutase and catalase in skin fibroblasts cultured from Ataxia telangiectasia patients. Isr.J. med. Sci. 1978; 14: 284
  • Beauchamp C., Fridovich I. Superoxide dismutase: Improved assays and an assay applicable to acrylamide gels. Analyt. Biochem. 1971; 44: 276
  • Brown K. W., Harnden D. G. Erythrocyte superoxide dismutase in Ataxia telangiectasia and Fanconi's anaemia. Lancet 1978; ii: 1260
  • Carrell R. W., Winterbourn C. C., Rachmilewitz E. A. Activated oxygen and haemolysis. Br. J. Haemat. 1975; 30: 259
  • Eriksson AW. Genetic polymorphisms in Finno-Ugrian populations: Finns, Lapps and Maris. Isr. J. med. Sci. 1973; 9: 1156
  • Fee J. A., Teitelbaum H. D. Evidence that superoxide dismutase plays a role in protecting red blood cells against peroxidative hemolysis. Biochem. Biophys. Res. Commun. 1972; 49: 150
  • Frants R. Isolation of superoxide dismutase from bovine liver. Acta Acad, Ahoensis, Ser. B. 1973; 33(I)
  • Frants R. R., Eriksson A. W., Jongbloet P. H., Hamers AJ. Superoxide dismutase in Down Syndrome. Lancet 1975; ii: 42
  • Fridovich Y. Superoxide dismutases. A. Rev. Biochem. 1975; 44: 147
  • Fujiwara Y., Tatsumi M., Sasaki M. Crosslink repair in human cells and its possible defect in Fanconi's anaemia cells. J. molec. Biol. 1977; 113: 635
  • Gmyrek D., Syllm-Rapoport I. Zur Fanconi-Anämie (FA). Analyse von 129 beschriebenen Fällen. Z. Kinderheilk. 1964; 91: 297
  • Halliwell B. Superoxide dismutase, catalase and glutathione peroxidase: solutions to the problems of living with oxygen. New Phytol. 1974; 73: 1075
  • Hartz J. W., Deutsch H. F. Preparation and physiocochemical properties of human erythrocuprein. J. biol. Chem. 1969; 244: 4565
  • Jalbert P., Leger J., Bost M., Bachelot C, Mouriquand C, Sele B., Frappat P. Fanconi's anaemia: cytochemical and biochemical aspects. Nouo. Rev. Franc. Haemat. 1975; 15: 551
  • Joenje H., Eriksson A. W., Frants R. R., Arwert F., Houwen B. Erythrocyte superoxide dismutase deficiency in Fanconi's anaemia. Lancet 1978; I: 204
  • Joenje H., Frants R. R., Arwert F., Eriksson A. W. Specific activity of human erythrocyte superoxide dismutase as a function of donor age. A brief note. Mech. Ageing Deo. 1978; 8: 265
  • Mancini G., Vaerman J. P., Carbonera A. O., Heremans J. F. Protides of biological fluids, H. Peeters. Elsevier, Amsterdam 1964; 370
  • Maral J., Puget K., Michelson A. M. Comparative study of superoxide dismutase, catalase and glutathione peroxidase levels in erythrocytes of different animals. Biochem. Biophys. Res. Commun. 1977; 77: 1525
  • Marklund S., Beckman G., Stigbrand T. A comparison between the common type and a rare genetic variant of human cupro-zinc superoxide dismutase. Eur. J. Biochem. 1976; 65: 415
  • McCord J. M., Fridovich I. Superoxide dismutase. An enzymic function for erythrocuprein (haemocuprein). J. biol. Chem. 1969; 244: 6049
  • Michelson A. M., Puget K., Durosay P., Bonneau J. C. Superoxide and superoxide dismutases, A. M. Michelson, J. M. McCord, I. Fridovich. Academic Press, London 1977; 467
  • Nordenson I. Effect of superoxide dismutase and catalase on spontaneously occurring chromosome breaks in patients with Fanconi's anaemia. Hereditas 1977; 86: 147
  • Schroeder T. M., Tilgren D., Kruger J., Vogel F. Formal genetics of Fanconi's anaemia. Hum. Genet. 1976; 32: 257
  • Scudder P., Stocks J., Dormandy T. L. The relationship between erythrocyte superoxide dismutase activity and erythrocyte copper levels in normal subjects and in patients with rheumatoid arthritis. Clin. Chim. Ada 1976; 69: 397
  • Stansell M. J., Deutsch H. F. Preparation of crystalline erythrocuprein and catalase from human erythrocytes. J. biol. Chem. 1965; 240: 4299
  • Stansell M. J., Deutsch H. F. The levels of catalase and of erythrocupurein in human erythrocytes. Clin. Chim. Acta 1966; 14: 598
  • Stevens C, Goldblatt M. J., Freedman J. C. Lack of erythrocyte superoxide dismutase change during human senescence. Mech. Ageing Deo. 1975; 4: 415
  • Winterbourn C. C., Hawkins R. E., Brian M., Carrell R. W. The estimation of red cell superoxide dismutase activity. J. Lab. din. Med. 1975; 85: 337

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.