Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease. Familial and biochemical studies of a case found in Spain

Author:

Vives-Corrons Joan-Lluis,Rubinson-Skala Henriette,Mateo Marina,Estella Jes�s,Feliu Evarist,Dreyfus Jean-Claude

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Angelman, H., Brain, M. C., Iver, M.: A case of triosephosphate isomerase deficiency with sudden death, p. 122. XIII International Congress of Hematology. München 1970

2. Beutler, E., Dern, R. J., Alving, A. S.: The hemolytic effect of primaquine. J. Lab. Clin. Med. 45, 40?50 (1955)

3. Beutler, E.: The glutathione instability of drug sensitive red cells. A new method for the in vitro detection of drug sensitivity. J. Lab. Clin. Med. 49, 84?96 (1957)

4. Boivin, P., Audollent, A., Galand, C.: Enzymopathies acquises. Anomalies observées dans 100 cas d'hémopathies diverses. Pathol. Biol. 18, 175?187 (1970)

5. Curnutte, J. T., Babior, B. M.: Biological defense mechanisms. The effect of bacteria and serum on superoxide production by granulocytes. J. Clin. Invest. 53, 1662?1672 (1974)

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