Deoxynucleoside therapy for respiratory involvement in adult patients with thymidine kinase 2-deficient myopathy

BACKGROUND: Recessive mutations in the thymidine kinase 2 (TK2) gene cause a rare mitochondrial myopathy, frequently with severe respiratory involvement. Deoxynucleoside therapy is currently under investigation. RESEARCH QUESTION: What is the impact of nucleosides in respiratory function in patients...

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Shranjeno v:
Bibliografske podrobnosti
izdano v:BMJ Open Respir Res
Main Authors: Hernandez-Voth, Ana, Sayas Catalan, Javier, Corral Blanco, Marta, Castaño Mendez, Alba, Martin, Miguel Angel, De Fuenmayor Fernandez de la Hoz, Carlos, Villena Garrido, Victoria, Dominguez-Gonzalez, Cristina
Format: Artigo
Jezik:Inglês
Izdano: BMJ Publishing Group 2020
Teme:
Non-Invasive Ventilation
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC7703425/
https://ncbi.nlm.nih.gov/pubmed/33246973
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bmjresp-2020-000774
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