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defined by PK enzyme activity or PK:HK ratio >1 SD below the control mean (healthy subject mean) as measured by enzyme assay, or potentially pathogenic mutations in the PKLR gene as found on PKLR sequencing
Defined by PK enzyme activity below normal (or a PK:HK ratio <8.7) as measured by enzyme assay, or known pathogenic mutations in the PKLR gene as found on PKLR sequencing
Red cell pyruvate kinase enzyme activity in patients not receiving red cell transfusion in the 60 days prior to blood draw
hexokinase enzyme activity ratio in patients not receiving red cell transfusion in the 60 days prior to blood draw
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