Abstract:Pyruvate kinase (PK) from four patients with moderate to severe congenital non-spherocytic haemolytic anaemia was characterized by methods recommended by the ICSH. The possibility that two of the patients are true homozygotes cannot be ruled out, while the other two apparently represent double heterozygotes. All but one had levels of PK activity between 44 and 65% of normal. The variant enzymes were designated ‘PK Pontos’, ‘PK Macedonia’, ‘PK Athens’ and ‘PK Larisa’. Multiple physicochemical as well as kinetic… Show more
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