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Listar por autor "Levy, Rebecca J"
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Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency.
López-Gómez, Carlos; Levy, Rebecca J; Sánchez-Quintero, María José; Juanola-Falgarona, Martí; Barca, Emanuele; Garcia Diaz, Beatriz; Tadesse, Saba; Garone, Caterina; Hirano, Michio[et al.] (Wiley, 2017)Objective—Thymidine kinase 2 (TK2), a critical enzyme in the mitochondrial pyrimidine salvage pathway, is essential for mitochondrial DNA (mtDNA) maintenance. Mutations in the nuclear gene TK2 cause TK2 deficiency, which ...