Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency

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dc.conference.dateSEP 28-OCT 02, 2020
dc.conference.title25th International Congress of the World-Muscle-Society (WMS)
dc.contributor.authorParadas, C.
dc.contributor.authorDominguez-Gonzalez, C.
dc.contributor.authorMadruga-Garrido, M.
dc.contributor.authorHirano, M.
dc.contributor.authorMarti, I.
dc.contributor.authorMunell, F.
dc.contributor.authorNascimento, A.
dc.contributor.authorOlive, M.
dc.contributor.authorQuan, J.
dc.contributor.authorSardina, D.
dc.contributor.authorMarti, R.
dc.contributor.authoraffiliation[Paradas, C.] Hosp Univ Virgen del Rocio, Seville, Spain
dc.contributor.authoraffiliation[Madruga-Garrido, M.] Hosp Univ Virgen del Rocio, Seville, Spain
dc.contributor.authoraffiliation[Dominguez-Gonzalez, C.] Hosp 12 Octubre Inst, Madrid, Spain
dc.contributor.authoraffiliation[Hirano, M.] Columbia Univ, Med Ctr, New York, NY USA
dc.contributor.authoraffiliation[Marti, I.] Donostia Univ Hosp, San Sebastian, Spain
dc.contributor.authoraffiliation[Munell, F.] Vall dHebron Hosp, Barcelona, Spain
dc.contributor.authoraffiliation[Nascimento, A.] Inst Salud Carlos III, Madrid, Spain
dc.contributor.authoraffiliation[Marti, R.] Inst Salud Carlos III, Madrid, Spain
dc.contributor.authoraffiliation[Olive, M.] IDIBELL Hosp Bellvitge, Barcelona, Spain
dc.contributor.authoraffiliation[Quan, J.] Modis Therapeut, Oakland, CA USA
dc.contributor.authoraffiliation[Sardina, D.] Badajoz Hosp Complex, Badajoz, Spain
dc.date.accessioned2025-01-07T15:34:38Z
dc.date.available2025-01-07T15:34:38Z
dc.date.issued2020-10-01
dc.identifier.doi10.1016/j.nmd.2020.08.312
dc.identifier.essn1873-2364
dc.identifier.issn0960-8966
dc.identifier.urihttps://hdl.handle.net/10668/27255
dc.identifier.wosID579727800305
dc.issue.number1
dc.journal.titleNeuromuscular disorders
dc.journal.titleabbreviationNeuromusc. disord.
dc.language.isoen
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.page.numberS139-S139
dc.publisherPergamon-elsevier science ltd
dc.titleCollaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency
dc.typeconference output
dc.volume.number30
dc.wostypeMeeting Abstract

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