Article
Management of pyruvate kinase deficiency in children and adults.
Blood - 10 Sept 2020
Grace Rachael F, Barcellini Wilma
Abstract excerpt
Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic pathway that causes congenital nonspherocytic 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...
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