J P Van Biervliet, A Vlug, H Bartstra, J J Rotteveel, G A de Vaan, G E Staal
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A new variant of glucosephosphate isomerase deficiency.
A new variant of glucose-6-phosphate isomerase deficiency is described. The enzyme kinetics and properties were studied. Genetic and electrophoretic data pointed to a double heterozygous state in the patient. These data are compared to the other variants described in the literature until now.
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