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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorSauter, Matthias
dc.contributor.authorBelousova, Elena
dc.contributor.authorPerkovic Benedik, Mirjana
dc.contributor.authorCarter, Tom
dc.contributor.authorCottin, Vincent
dc.contributor.authorCuratolo, Paolo
dc.contributor.authorMacaya Ruíz, Alfons
dc.date.accessioned2022-02-25T13:32:54Z
dc.date.available2022-02-25T13:32:54Z
dc.date.issued2021-07-06
dc.identifier.citationSauter 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.issn1750-1172
dc.identifier.urihttps://hdl.handle.net/11351/7088
dc.descriptionManifestació rara; Tosca; Complex d'esclerosi tuberosa
dc.description.sponsorshipThe 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.isoeng
dc.publisherBMC
dc.relation.ispartofseriesOrphanet Journal of Rare Diseases;16
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectEsclerosi tuberosa - Aspectes genètics
dc.subjectRegistres mèdics
dc.subjectMalalties rares
dc.subject.meshTuberous Sclerosis
dc.subject.mesh/genetics
dc.subject.meshRegistries
dc.subject.meshRare Diseases
dc.titleRare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1186/s13023-021-01917-y
dc.subject.decsesclerosis tuberosa
dc.subject.decs/genética
dc.subject.decsregistros
dc.subject.decsenfermedades raras
dc.relation.publishversionhttps://doi.org/10.1186/s13023-021-01917-y
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut 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.pmid34229737
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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