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dc.contributor.authorCappellini, María Domenica
dc.contributor.authorLukina, Elena
dc.contributor.authorÖzsan, Hayri
dc.contributor.authorMistry, Pramod K.
dc.contributor.authorMach Pascual, Sara
dc.contributor.authorRosenbaum, Hanna
dc.contributor.authorSolano, María Helena
dc.contributor.authorSpigelman, Zachary
dc.contributor.authorVillarrubia, Jesús
dc.contributor.authorWatman, Nora Patricia
dc.contributor.authorMassenkeil, Gero
dc.description6 p.spa
dc.date.accessioned2021-02-10T14:13:57Z
dc.date.issued2010-09-23
dc.description.abstractenglishType 1 (non neuronopathic) Gaucher disease was the first lysosomal storage disorder for which an effective enzyme replacement therapy was developed and it has become a prototype for treatments for related orphan diseases. There are currently four treatment options available to patients with Gaucher disease, nevertheless, almost 25% of type 1 Gaucher patients do not gain timely access to therapy because of delays in diagnosis after the onset of symptoms. Diagnosis of Gaucher disease by enzyme testing is unequivocal, but the rarity of the disease and non-specific and heterogeneous nature of Gaucher disease symptoms may impede consideration of this disease in the differential diagnosis. To help promote timely diagnosis and optimal management of the protean presentations of Gaucher disease, a consensus meeting was convened to develop algorithms for diagnosis and disease management for Gaucher disease.spa
dc.sourcehttps://onlinelibrary.wiley.com/doi/full/10.1002/ajh.21888spa
dc.titleConsensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithmseng
dc.format.mimetypeapplication/pdfspa
dc.typeArtículo de revistaspa
dc.date.available2021-02-10T14:13:57Z
dc.identifier.doi
dc.identifier.doihttps://doi.org/10.1002/ajh.21888
dc.identifier.urihttps://repositorio.fucsalud.edu.co/handle/001/1337
dc.language.isoengspa
dc.relation.ispartofAm J Hematol. 2011 January ; 86(1): 110–115.
dc.rights.accessrightsinfo:eu-repo/semantics/restrictedAccessspa
dc.rights.creativecommonsAtribución 4.0 Internacional (CC BY 4.0)spa
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/spa
dc.subject.otherEnfermedad de Gaucher - Tratamiento
dc.subject.proposalGaucher diseaseeng
dc.subject.proposalEnzyme replacement therapyeng
dc.type.coarhttp://purl.org/coar/resource_type/c_8544spa
dc.type.dcmi-type-vocabularyTextspa
dc.type.driverinfo:eu-repo/semantics/articlespa
dc.type.versioninfo:eu-repo/semantics/publishedVersionspa
dc.relation.citationendpage115spa
dc.relation.citationissue1spa
dc.relation.citationstartpage110spa
dc.relation.citationvolume86spa
dc.relation.citesCappellini, M, Lukina, E, Özsan, H, Mistry, P, Mach Pascual, S, Rosenbaum, H, Solano, M, Spigelman, Z, Villarrubia, J, Watman, N y Massenkeil, G. (2010-09-23.). Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms.spa
dc.relation.ispartofjournalThe American Journal of Hematologyspa
dc.type.contentTextspa
oaire.accessrightshttp://purl.org/coar/access_right/c_14cbspa
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa


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