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Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: Variant Paderborn

✍ Scribed by Schr�ter, W. ;Tillmann, W.


Publisher
Springer-Verlag
Year
1977
Tongue
English
Weight
514 KB
Volume
55
Category
Article
ISSN
1432-1440

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A new deficient variant of glucose-6-phosphate dehydrogenase (G6PD) causing severe congenital nonspherocytic hemolytic anemia (CNSHA) is described. The variant enzyme, characterized by slow electrophoretic mobility, extreme in vivo and in vitro lability, high Km for G6P and strongly acidic pH optimu