Mucopolysaccharidosis type iv: report of 5 cases of morquio syndrome

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dc.contributor.authorCadena Arteaga, Jorge Alejandro
dc.contributor.authorLasso Andrade, Fabricio Andres
dc.contributor.authorAchicanoy Puchana, Denny Marcela
dc.contributor.authorAchicanoy Puchana, Diana Fernanda
dc.contributor.authorCaicedo Morillo, Gina Natalia
dc.contributor.authorMedina-Bravo, Paola Andrea
dc.contributor.authorJuez Neira, William Fernando
dc.contributor.authorVanegas Bastidas, Cristian Ricardo
dc.contributor.authorMontoya Ríos, Diana Carolina
dc.contributor.authorVasquez Correa, Karen Julieth
dc.contributor.authorSuárez Cuéllar, Laura Catalina
dc.contributor.authorOsorio Segura, Lady Johana
dc.date.accessioned2022-02-09T20:09:00Z
dc.date.available2022-02-09T20:09:00Z
dc.date.issued2022-02
dc.description.abstractMucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.spa
dc.description.abstractenglishMucopolysaccharidosis type IV or Morquio Syndrome, is a lysosomal deposit disease, of autosomal recessive inheritance with a similar incidence in men and women. The clinical picture is of variable expressiveness, its phenotype is characterized by skeletal dysplasia that includes neck and short trunk, short stature, keel thorax, kyphosis, scoliosis, genus valgus, flat foot, coxa valga, gait disorders, instability of the cervical spine and wedge or ovoid vertebrae. The treatment is symptomatic, with enzyme replacement. We present a series of 5 cases, the product of 2 couples, with a confirmed diagnosis of Mucopolysaccharidosis type IV, and different clinical presentation.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.radcr.2021.11.012
dc.identifier.instnameinstname:Universidad El Bosquespa
dc.identifier.issn1930-0433
dc.identifier.reponamereponame:Repositorio Institucional Universidad El Bosquespa
dc.identifier.repourlrepourl:https://repositorio.unbosque.edu.co
dc.identifier.urihttps://hdl.handle.net/20.500.12495/6777
dc.language.isoeng
dc.publisherElsevier Inc.spa
dc.publisher.journalRadiology Case Reportsspa
dc.relation.ispartofseriesRadiology Case Reports, 1930-0433, Vol 17, Num 2, 2022, pag 385-391spa
dc.relation.urihttps://linkinghub.elsevier.com/retrieve/pii/S1930-0433(21)00792-5
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional*
dc.rights.accessrightshttps://purl.org/coar/access_right/c_abf2
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess
dc.rights.accessrightsAcceso abierto
dc.rights.localAcceso abiertospa
dc.rights.urihttps://creativecommons.org/licenses/by-nc-nd/4.0/*
dc.subjectSíndrome de morquiospa
dc.subjectMucopolisacaridosisspa
dc.subjectBaja estaturaspa
dc.subjectGlicosaminoglicanosspa
dc.subject.keywordsMorquio syndromespa
dc.subject.keywordsMucopolysaccharidosisspa
dc.subject.keywordsShort staturespa
dc.subject.keywordsGlycosaminoglycansspa
dc.titleMucopolysaccharidosis type iv: report of 5 cases of morquio syndromespa
dc.title.translatedMucopolysaccharidosis type iv: report of 5 cases of morquio syndromespa
dc.type.coarhttps://purl.org/coar/resource_type/c_6501
dc.type.coarversionhttps://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.driverinfo:eu-repo/semantics/article
dc.type.hasversioninfo:eu-repo/semantics/publishedVersion
dc.type.localArtículo de revista

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