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Glucosephosphate isomerase deficiency type Li�ge: A new variant with congenital nonspherocytic hemolytic anemia

✍ Scribed by Arnold, H. ;Dodinval-Versie, J. ;Lambotte, C. ;L�hr, G. W. ;Hofstadt, J.


Publisher
Springer-Verlag
Year
1977
Weight
541 KB
Volume
35
Category
Article
ISSN
1432-0584

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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