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A new variant of glucosephosphate isomerase deficiency. |
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| Authors: | J P Van Biervliet A Vlug H Bartstra J J Rotteveel G A de Vaan G E Staal |
| Abstract: | 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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