Anemia, Hemolytic, Congenital Nonspherocytic
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Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the gene results in pyruvate… Expand Pyruvate kinase (PK) is critical for the regulation of the glycolytic pathway. The regulatory properties ofEscherichia coli were… Expand Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia. The prevalence of this… Expand Five unrelated patients with hereditary glucosephosphate isomerase (GPI) deficiency resulting in nonspherocytic hemolytic anemia… Expand Three novel splice site mutations and two novel missense mutations were identified by molecular analysis of pyruvate kinase (PK… Expand Mutations that produce glucose-6-phosphate dehydrogenase (G6PD) deficiency have been identified in samples from patients with… Expand DNA analysis was performed on 30 unrelated patients with hereditary nonspherocytic hemolytic anemia (HNSHA) who had been found to… Expand LTHOUGH the congenital nonspherocytic hemolytic anemias represent a heterogeneous group of diseases, they have certain features… Expand It has been well demonstrated in man and in other species that the fundamental expression of a hereditary chemical disorder may… Expand Summary The clinical course, hematologic data, and red cell glutathione and glucose-6-phosphate dehydrogenase studies are… Expand