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pubmed:abstractText |
Hematologic, genetic and biochemical data of two patients suffering from glucosephosphate isomerase deficiency are described. In one of them a generalized deficiency could be demonstrated. The molecular instability of the deficient enzyme results in early inactivation. Its consequences for carbohydrate metabolism are exposed. Besides a non-spherocytic hemolytic anemia, a hepatic glycogenosis could be observed. Our patients are compared to litterature.
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