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Management of pyruvate kinase deficiency in children and adults

from Blood

Management of pyruvate kinase deficiency in children and adults Blood Pyruvate kinase deficiency (PKD) is an autosomal recessive enzyme defect of the glycolytic pathway that causes congenital, non-spherocytic hemolytic anemia. The diagnosis and management of patients with PKD can be challenging due to difficulties in the diagnostic evaluation and the heterogeneity of clinical manifestations, ranging from fetal hydrops and symptomatic anemia requiring lifelong transfusions to fully compensated hemolysis. READ MORE

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