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Autor:
C. Pepe, S. Eandi Eberle, H. Donato, N. Basack, M.F. Tisi Baña, M.A. Cedola, E. García, M.C. Rapetti, E. Rubulotta, B. Milanesio, A. Maquijo Bisio, M.A. Cichierichetti, A. Lazarowski, V. Avalos Gomez
Publikováno v:
Journal of Hematology Research. 9:4-9
The red blood cell (RBC) pyruvate kinase deficiency (PKD) is the most common recessive congenital defect of glycolytic enzymes associated with non-spherocytic hemolytic anemia. It is a rare hereditary disorder caused by >300 variants in the PKLR gene