[Glucose-6-phosphate dehydrogenase deficiency in 2 siblings. (Quantitative determination)].
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G6PD-deficient erythrocytes (Mediterranean type of this enzyme disorder) were loaded with a) normal G6PD purified to homogeneity from human erythrocytes, b) G6PD Mediterranean purified from deficient granulocytes. The first set of experiments led to complete normalization of biochemical properties of erythrocytes, as assessed by evaluating their metabolic competence under steady state conditions and under oxidative stress as well. The second type of experiment allowed us to conclude that mutant G6PD is not appreciably destroyed within the affected erythrocytes.
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