dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Sauter, Matthias |
dc.contributor.author | Belousova, Elena |
dc.contributor.author | Perkovic Benedik, Mirjana |
dc.contributor.author | Carter, Tom |
dc.contributor.author | Cottin, Vincent |
dc.contributor.author | Curatolo, Paolo |
dc.contributor.author | Macaya Ruíz, Alfons |
dc.date.accessioned | 2022-02-25T13:32:54Z |
dc.date.available | 2022-02-25T13:32:54Z |
dc.date.issued | 2021-07-06 |
dc.identifier.citation | Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). Orphanet J Rare Dis. 2021 Jul 6;16:301. |
dc.identifier.issn | 1750-1172 |
dc.identifier.uri | https://hdl.handle.net/11351/7088 |
dc.description | Manifestació rara; Tosca; Complex d'esclerosi tuberosa |
dc.description.sponsorship | The study was funded by Novartis Pharma AG. Novartis has contributed to the study design, data analysis, and the decision to publish. Novartis authors reviewed the draft for submission. |
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 | Esclerosi tuberosa - Aspectes genètics |
dc.subject | Registres mèdics |
dc.subject | Malalties rares |
dc.subject.mesh | Tuberous Sclerosis |
dc.subject.mesh | /genetics |
dc.subject.mesh | Registries |
dc.subject.mesh | Rare Diseases |
dc.title | Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1186/s13023-021-01917-y |
dc.subject.decs | esclerosis tuberosa |
dc.subject.decs | /genética |
dc.subject.decs | registros |
dc.subject.decs | enfermedades raras |
dc.relation.publishversion | https://doi.org/10.1186/s13023-021-01917-y |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Sauter M] Klinikum Kempten, Klinikverbund Allgäu, Robert-Weixler-Str. 50, 87439 Kempten, Germany. [Belousova E] Research and Clinical Institute of Pediatrics, Pirogov Russian National Research Medical University, Moscow, Russian Federation. [Benedik MP] SPS Pediatrična Klinika, Ljubljana, Slovenia. [Carter T] TSA Tuberous Sclerosis Association, Nottingham, UK. [Cottin V] Hôpital Louis Pradel, Claude Bernard University Lyon 1, Lyon, France. [Curatolo P] Tor Vergata University Hospital, Rome, Italy. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain |
dc.identifier.pmid | 34229737 |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |