dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Domínguez-Gonzalez, C. |
dc.contributor.author | Madruga‑Garrido, Marcos |
dc.contributor.author | Hirano, Michio |
dc.contributor.author | Martí, Itxaso |
dc.contributor.author | Martín, Miguel A. |
dc.contributor.author | Munell Casadesus, Francina |
dc.contributor.author | Martí Seves, Ramón |
dc.date.accessioned | 2022-05-03T13:16:44Z |
dc.date.available | 2022-05-03T13:16:44Z |
dc.date.issued | 2021-10-02 |
dc.identifier.citation | Domínguez-González C, Madruga-Garrido M, Hirano M, Martí I, Martín MA, Munell F, et al. 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;16:407. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/7469 |
dc.description | Malaltia mitocondrial; Medicina mitocondrial; Deficiència de timidina cinasa 2 (TK2d) |
dc.description.sponsorship | This study was sponsored by Zogenix, Inc., and ERN EURO-NMD. The sponsors reviewed the drafts and provided medical writing support for draft preparation. |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;16 |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Malalties rares - Diagnòstic |
dc.subject | Malalties rares - Tractament |
dc.subject.mesh | Rare Diseases |
dc.subject.mesh | /diagnosis |
dc.subject.mesh | Thymidine Kinase |
dc.subject.mesh | /deficiency |
dc.title | Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-021-02030-w |
dc.subject.decs | enfermedades raras |
dc.subject.decs | /diagnóstico |
dc.subject.decs | timidina cinasa |
dc.subject.decs | /deficiencia |
dc.relation.publishversion | https://doi.org/10.1186/s13023-021-02030-w |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Domínguez-González C] Neuromuscular Disorders Unit, Neurology Department, Hospital 12 de Octubre, Madrid, Spain. Instituto de Investigación imas12, Hospital 12 de Octubre, Madrid, Spain. Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Madruga-Garrido M] Pediatric Neurology Department, Hospital U. Virgen del Rocío, Seville, Spain. [Hirano M] Neurology Department, H. Houston Merritt Center, Columbia University Irving Medical Center, New York, NY, USA. [Martí I] Pediatric Department, Donostia University Hospital, Biodonostia Health Research Institute, University of the Basque Country, San Sebastián, Spain. [Martín MA] Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Mitochondrial Diseases Laboratory, Department of Biochemistry, Research Institute Hospital 12 de Octubre (imas12), Madrid, Spain. [Munell F] Servei de Pediatria, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Martí R] Center for Biomedical Network Research On Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. Grup de Recerca en Patologia Neuromuscular i Mitocondrial, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain |
dc.identifier.pmid | 34600563 |
dc.identifier.wos | 000702781900004 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |