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Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
Orphanet J Rare Dis. 2021 Oct 2;16(1):407. doi: 10.1186/s13023-021-02030-w.
Orphanet J Rare Dis. 2021.
PMID: 34600563
Free PMC article.
Review.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Domínguez-González C, Madruga-Garrido M, Mavillard F, Garone C, Aguirre-Rodríguez FJ, Donati MA, Kleinsteuber K, Martí I, Martín-Hernández E, Morealejo-Aycinena JP, Munell F, Nascimento A, Kalko SG, Sardina MD, Álvarez Del Vayo C, Serrano O, Long Y, Tu Y, Levin B, Thompson JLP, Engelstad K, Uddin J, Torres-Torronteras J, Jimenez-Mallebrera C, Martí R, Paradas C, Hirano M.
Domínguez-González C, et al. Among authors: sardina md.
Ann Neurol. 2019 Aug;86(2):293-303. doi: 10.1002/ana.25506. Epub 2019 Jun 17.
Ann Neurol. 2019.
PMID: 31125140
Free PMC article.
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Prevalence of atrial fibrillation in Spain. OFRECE study results.
Gómez-Doblas JJ, Muñiz J, Martin JJ, Rodríguez-Roca G, Lobos JM, Awamleh P, Permanyer-Miralda G, Chorro FJ, Anguita M, Roig E; OFRECE study collaborators.
Gómez-Doblas JJ, et al.
Rev Esp Cardiol (Engl Ed). 2014 Apr;67(4):259-69. doi: 10.1016/j.rec.2013.07.014. Epub 2013 Nov 25.
Rev Esp Cardiol (Engl Ed). 2014.
PMID: 24774588
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