Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.

@article{Bianchi2019AddressingTD,
  title={Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.},
  author={Paola Bianchi and Elisa Fermo and Bertil E. Glader and Hitoshi Kanno and Archana M Agarwal and Wilma Barcellini and Stefan W. Eber and James D. Hoyer and David J Kuter and Tabita Magalh{\~a}es Maia and Mar{\'i}a del Mar Ma{\~n}{\'u}-Pereira and Theodosia A Kalfa and Serge Pissard and J. Segovia and Eduard J van Beers and Patrick G Gallagher and David C Rees and Richard van Wijk},
  journal={American journal of hematology},
  year={2019},
  volume={94 1},
  pages={
          149-161
        }
}
Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a worldwide geographical distribution but there are no verified data regarding its frequency. Difficulties in the diagnostic workflow and interpretation of PK enzyme assay likely play a role. By the creation of a global PKD International Working Group in 2016, involving 24 experts from 20 Centers of Expertise we studied the… CONTINUE READING

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