Pyruvate Metabolism, Inborn Errors

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  Subject Areas on Research

  • Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study. 
  • Mitapivat versus Placebo for Pyruvate Kinase Deficiency. 
  • Pyruvate kinase deficiency in children. 
  • The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency.