TY  - JOUR
AU  - Lopez-Gomez, Carlos
AU  - Levy, Rebecca J
AU  - Sanchez-Quintero, Maria J
AU  - Juanola-Falgarona, Martí
AU  - Barca, Emanuele
AU  - Garcia-Diaz, Beatriz
AU  - Tadesse, Saba
AU  - Garone, Caterina
AU  - Hirano, Michio
PY  - 2017
DO  - 10.1002/ana.24922
UR  - http://hdl.handle.net/10668/10975
T2  - Annals of neurology
AB  - 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 manifests predominantly in children as...
LA  - en
PB  - Wiley
KW  - Mitochondrial Diseases
KW  - Tetrahydrouridine
KW  - Thymidine
KW  - Thymidine Kinase
KW  - Animals
KW  - Antimetabolites
KW  - DNA, Mitochondrial
KW  - Deoxycytidine Monophosphate
KW  - Disease Models, Animal
KW  - Drug Therapy, Combination
KW  - Metabolism, Inborn Errors
KW  - Mice
KW  - Mice, Transgenic
TI  - Deoxycytidine and Deoxythymidine Treatment for Thymidine Kinase 2 Deficiency.
TY  - research article
VL  - 81
ER  -