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pro vyhledávání: '"Begoña Pérez Camino de Gaisse"'
Autor:
José C. Segovia, Julián Sevilla, Susana Navarro, Gayatri R Rao, Miriam Zeini, Eileen Nicoletti, Jose Luis Lopez Lorenzo, Oscar Quintana Bustamante, Brian C. Beard, Sol Sanchez, Lucía Llanos, Begoña Pérez Camino de Gaisse, Juan A. Bueren, Grace Choi, Ami J. Shah, Maria Grazia Roncarolo, Jonathan D. Schwartz, May Chien, Bertil Glader, Kenneth Law
Publikováno v:
Blood. 136:47-47
Introduction: Pyruvate Kinase Deficiency (PKD) is a rare inherited hemolytic anemia that is caused by mutations in the PKLR gene leading to decreased red cell pyruvate kinase (RPK) activity and impaired erythrocyte metabolism. The disorder is charact