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Deoxycytidine and deoxythymidine treatment for thymidine kinase 2 deficiency

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 manifests predominantly in children as myopathy with mtDNA depletion. Molecula...

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Detaylı Bibliyografya
Yayımlandı:Ann Neurol
Asıl Yazarlar: Lopez-Gomez, Carlos, Levy, Rebecca J, Sanchez-Quintero, Maria J, Juanola-Falgarona, Marti, Barca, Emanuele, Garcia-Diaz, Beatriz, Tadesse, Saba, Garone, Caterina, Hirano, Michio
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5926768/
https://ncbi.nlm.nih.gov/pubmed/28318037
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ana.24922
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