pyruvaat-kinasedeficiëntie

Also known as pyruvate kinase deficiency of red cells, hemolytic anemia due to red cell pyruvate kinase deficiency, PK deficiency, pyruvate kinase deficiency of erythrocyte, Pyruvate kinase deficiency of erythrocytes

congenital nonspherocytic hemolytic anemia that has material basis in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22