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dc.contributor.authorTejada Moreno, Johanna Alexandra-
dc.contributor.authorMejía García, Alejandro-
dc.contributor.authorVillegas Lanau, Carlos Andrés-
dc.contributor.authorFajardo Jiménez, María José-
dc.contributor.authorZapata Builes, Wildeman-
dc.contributor.authorRestrepo, Jorge E.-
dc.contributor.authorCuartas, Gina P.-
dc.contributor.authorHernández, Juan C.-
dc.date.accessioned2024-08-10T17:27:28Z-
dc.date.available2024-08-10T17:27:28Z-
dc.date.issued2022-
dc.identifier.citationFajardo-Jiménez MJ, Tejada-Moreno JA, Mejía-García A, Villegas-Lanau A, Zapata-Builes W, Restrepo JE, Cuartas GP, Hernandez JC. Ehlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbidities. Genes (Basel). 2022 Nov 15;13(11):2118. doi: 10.3390/genes13112118. PMID: 36421793; PMCID: PMC9689997.spa
dc.identifier.issn2073-4424-
dc.identifier.urihttps://hdl.handle.net/10495/41079-
dc.description.abstractABSTRACT: Ehlers-Danlos syndromes (EDS) are a heterogeneous group of genetically transmitted connective tissue disorders that directly affect collagen synthesis, with a broad range of symptoms. Case presentation: This study presents a clinical case of a Colombian woman with myopathic EDS and multiple comorbidities taking 40 years of medical history to make the right diagnosis. This article also presents a review of the current literature on EDS, not only to remind the syndrome but also to help the clinician correctly identify symptoms of this diverse syndrome. Conclusion: A multidisciplinary approach to the diagnosis of the patient, including clinical and molecular analysis, and neuropsychological and psychological assessment, is important to improve the treatment choice and the outcome prediction of the patients.spa
dc.format.extent17 páginasspa
dc.format.mimetypeapplication/pdfspa
dc.language.isoengspa
dc.publisherMDPIspa
dc.type.hasversioninfo:eu-repo/semantics/publishedVersionspa
dc.rightsinfo:eu-repo/semantics/openAccessspa
dc.rights.urihttp://creativecommons.org/licenses/by/2.5/co/*
dc.titleEhlers-Danlos: A Literature Review and Case Report in a Colombian Woman with Multiple Comorbiditiesspa
dc.typeinfo:eu-repo/semantics/articlespa
dc.publisher.groupGenética Molecular (GENMOL)spa
dc.publisher.groupGrupo de Neurociencias de Antioquiaspa
dc.identifier.doi10.3390/genes13112118-
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85spa
dc.rights.accessrightshttp://purl.org/coar/access_right/c_abf2spa
oaire.citationtitleGenesspa
oaire.citationstartpage1spa
oaire.citationendpage17spa
oaire.citationvolume13spa
oaire.citationissue11spa
dc.rights.creativecommonshttps://creativecommons.org/licenses/by/4.0/spa
oaire.fundernameUniversidad Cooperativa de Colombiaspa
dc.publisher.placeBasilea, Suizaspa
dc.type.coarhttp://purl.org/coar/resource_type/c_dcae04bcspa
dc.type.redcolhttps://purl.org/redcol/resource_type/ARTREVspa
dc.type.localArtículo de revisiónspa
dc.subject.decsColombia - epidemiología-
dc.subject.decsColombia - epidemiology-
dc.subject.decsComorbilidad-
dc.subject.decsComorbidity-
dc.subject.decsSíndrome de Ehlers-Danlos-
dc.subject.decsEhlers-Danlos Syndrome-
dc.description.researchgroupidCOL0006723spa
dc.description.researchgroupidCOL0010744spa
oaire.awardnumberINV1894spa
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D003105-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D015897-
dc.subject.meshurihttps://id.nlm.nih.gov/mesh/D004535-
dc.relation.ispartofjournalabbrevGenesspa
oaire.funderidentifier.rorRoR:04td15k45-
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