Glucosephosphat-Isomerase Typ Recklinghausen: eine neue Defektvariante mit hämolytischer Anämie

Heidwolf Arnold,Rupert Engelhardt,Georg W Lohr,Herbert P Jacobi,I. Liebold

Journal of Molecular Medicine（1973）

引用 18|浏览4

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摘要

Summary Hereditary deficiency of glucose phosphate isomerase (GPI) was observed in a 9-year old gire of German origin. Residual enzyme activity in red cells was 15%, in platelets 33%, and in leukocytes 35%. The patient is suffering from severe non-spherocytic haemolytic anaemia. Splenectomy did not bring about a remarkable clinical improvement.

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关键词

biochemical properties,enzyme vaxian~,red cell meta- bolism.,glucose phosphate isomerase,haemoly~ic anaemia,Glucosephosphat-Isomerase,Defektvariante,hämolytische Anämie,biochemische Eigenschaften,Erythrocytenstoffwechsel,Glucose phosphate isomerase,enzyme variant,haemolytic anaemia,red cell metabolism

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