TY  - JOUR 
AU  - Garone, Caterina
AU  - García-Díaz, Beatriz
AU  - Emmanuele, Valentina
AU  - López García, Luis Carlos
AU  - Tadesse, Saba
AU  - Akman, Hasan O.
AU  - Tanji, Kurenai
AU  - Quinzii, Catarina M.
AU  - Hirano, Michio
PY  - 2014
SN  - 1757-4676
UR  - http://hdl.handle.net/10481/32994
AB  - Autosomal recessive mutations in the thymidine kinase 2 gene (TK2) cause mitochondrial DNA depletion, multiple deletions, or both due to loss of TK2 enzyme activity and ensuing unbalanced deoxynucleotide triphosphate (dNTP) pools. To bypass Tk2...
LA  - eng
PB  - Wiley-Blackwell
KW  - Deoxycytidine Monophosphate
KW  - Deoxythymidine Monophosphate
KW  - Encephalomyopathy
KW  - Therapy
KW  - Thymidine Kinase
TI  - Deoxypyrimidine monophosphate bypass therapy for thymidine kinase 2 deficiency
DO  - 10.15252/emmm.201404092
ER  -