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Case Reports
. 1975 Nov;64(6):868-72.
doi: 10.1111/j.1651-2227.1975.tb03939.x.

Glucosephosphate isomerase deficiency in a Dutch family

J P Van Biervliet
Case Reports

Glucosephosphate isomerase deficiency in a Dutch family

J P Van Biervliet. Acta Paediatr Scand. 1975 Nov.

Abstract

A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.

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