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Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family

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Summary

A severe hemolytic crisis was observed in a 5-yearold boy of Italian origin. Analysis of his hemolysate revealed a hemizygous deficiency of glucose-6-phosphate dehydrogenese (G6PD) and a heterozygous deficiency of glucosephosphate isomerase (GPI). According to the literature this is the fourth family with a combined deficiency of these two enzymes located on different chromosomes. Only the G6PD deficiency seems to be responsible for the hemolytic crisis.

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Authors and Affiliations

  1. Medizinische Universitätsklinik, D-7800, Freiburg, Federal Republic of Germany

    H. Arnold, G. W. Löhr & K. Hasslinger

  2. Universitäts-Kinderklinik, D-6900, Heidelberg, Federal Republic of Germany

    R. Ludwig

Authors
  1. H. Arnold
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  2. G. W. Löhr
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  3. K. Hasslinger
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  4. R. Ludwig
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Dedicated to Prof. Dr. Walter Sandritter on occasion of his 60th birthday

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Arnold, H., Löhr, G.W., Hasslinger, K. et al. Combined erythrocyte glucosephosphate isomerase (GPI) and glucose-6-phosphate dehydrogenase (G6PD) deficiency in an italian family. Hum Genet 57, 226–229 (1981). https://doi.org/10.1007/BF00282031

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  • DOI: https://doi.org/10.1007/BF00282031

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