dc.contributor.author | Cappellini, María Domenica | |
dc.contributor.author | Lukina, Elena | |
dc.contributor.author | Özsan, Hayri | |
dc.contributor.author | Mistry, Pramod K. | |
dc.contributor.author | Mach Pascual, Sara | |
dc.contributor.author | Rosenbaum, Hanna | |
dc.contributor.author | Solano, María Helena | |
dc.contributor.author | Spigelman, Zachary | |
dc.contributor.author | Villarrubia, Jesús | |
dc.contributor.author | Watman, Nora Patricia | |
dc.contributor.author | Massenkeil, Gero | |
dc.description | 6 p. | spa |
dc.date.accessioned | 2021-02-10T14:13:57Z | |
dc.date.issued | 2010-09-23 | |
dc.description.abstractenglish | Type 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.source | https://onlinelibrary.wiley.com/doi/full/10.1002/ajh.21888 | spa |
dc.title | Consensus Conference: A reappraisal of Gaucher disease - diagnosis and disease management algorithms | eng |
dc.format.mimetype | application/pdf | spa |
dc.type | Artículo de revista | spa |
dc.date.available | 2021-02-10T14:13:57Z | |
dc.identifier.doi | | |
dc.identifier.doi | https://doi.org/10.1002/ajh.21888 | |
dc.identifier.uri | https://repositorio.fucsalud.edu.co/handle/001/1337 | |
dc.language.iso | eng | spa |
dc.relation.ispartof | Am J Hematol. 2011 January ; 86(1): 110–115. | |
dc.rights.accessrights | info:eu-repo/semantics/restrictedAccess | spa |
dc.rights.creativecommons | Atribución 4.0 Internacional (CC BY 4.0) | spa |
dc.rights.uri | https://creativecommons.org/licenses/by/4.0/ | spa |
dc.subject.other | Enfermedad de Gaucher - Tratamiento | |
dc.subject.proposal | Gaucher disease | eng |
dc.subject.proposal | Enzyme replacement therapy | eng |
dc.type.coar | http://purl.org/coar/resource_type/c_8544 | spa |
dc.type.dcmi-type-vocabulary | Text | spa |
dc.type.driver | info:eu-repo/semantics/article | spa |
dc.type.version | info:eu-repo/semantics/publishedVersion | spa |
dc.relation.citationendpage | 115 | spa |
dc.relation.citationissue | 1 | spa |
dc.relation.citationstartpage | 110 | spa |
dc.relation.citationvolume | 86 | spa |
dc.relation.cites | Cappellini, 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.ispartofjournal | The American Journal of Hematology | spa |
dc.type.content | Text | spa |
dc.type.coarversion | http://purl.org/coar/version/c_970fb48d4fbd8a85 | spa |
dc.rights.coar | http://purl.org/coar/access_right/c_14cb | spa |