dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Domínguez-Gonzalez, C. |
dc.contributor.author | Hernández-Laín, Aurelio |
dc.contributor.author | Rivas, Eloy |
dc.contributor.author | Hernández-Voth, Ana |
dc.contributor.author | Sayas Catalán, Javier |
dc.contributor.author | Fernández-Torrón, Roberto |
dc.contributor.author | García Arumí, Elena |
dc.date.accessioned | 2019-07-04T07:33:25Z |
dc.date.available | 2019-07-04T07:33:25Z |
dc.date.issued | 2019-05-06 |
dc.identifier.citation | Domínguez-González C, Hernández-Laín A, Rivas E, Hernández-Voth A, Sayas Catalán J, Fernández-Torrón R, et al. Late-onset thymidine kinase 2 deficiency: a review of 18 cases. Orphanet J Rare Dis. 2019;14(1):100. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/4178 |
dc.description | Miopatia mitocondrial; Delecions múltiples; Deficiència de TK2 |
dc.language.iso | eng |
dc.publisher | BMC |
dc.relation.ispartofseries | Orphanet Journal of Rare Diseases;14(1) |
dc.rights | Attribution-NonCommercial-NoDerivatives 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
dc.source | Scientia |
dc.subject | Músculs - Malalties - Aspectes genètics |
dc.subject | Timidina |
dc.subject | Mutació (Biologia) |
dc.subject.mesh | Mitochondrial Myopathies |
dc.subject.mesh | Thymidine Kinase |
dc.subject.mesh | /genetics |
dc.subject.mesh | Late Onset Disorders |
dc.title | Late-onset thymidine kinase 2 deficiency: a review of 18 cases |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-019-1071-z |
dc.subject.decs | miopatías mitocondriales |
dc.subject.decs | timidina cinasa |
dc.subject.decs | /genética |
dc.subject.decs | trastornos de aparición tardía |
dc.relation.publishversion | https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1071-z |
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] Neurology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. Research Institute i+12, 12 de Octubre Hospital, Madrid, Spain. Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Hernández-Laín A] Neuropathology, Pathology Department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Rivas E] Pathological Anatomic Department, Neuromuscular Disorders Unit, Instituto de Biomedicina de Sevilla, Hospital U. Virgen del Rocío, CSIC, Universidad de Sevilla, Sevilla, Spain. [Hernández-Voth A, Sayas Catalán J] Neumology department, Neuromuscular disorders Unit, 12 de Octubre Hospital, Madrid, Spain. [Fernández-Torrón R] Neurology Department, Neuromuscular disorders Unit, Hospital de Donostia, San Sebastian, Spain. [García Arumi E] Biomedical Network Research Centre 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, Barcelona, Spain. Universitat Autònoma de Barcelona, Barcelona, Spain. |
dc.identifier.pmid | 31060578 |
dc.identifier.wos | WOS:000467271200001 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |