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Hemophilia: Molecular diagnosis and alternatives of treatment

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dc.creatorBermeo S.M.spa
dc.creatorSilva C.T.spa
dc.creatorFonseca Mendoza, Dora Janethspa
dc.creatorRestrepo Fernández, Carlos Martínspa
dc.date.accessioned2020-05-26T00:04:46Z
dc.date.available2020-05-26T00:04:46Z
dc.date.created2007spa
dc.description.abstractThe haemophilia is a recessive disease tied to the X chromosome that generally men suffer. The genetic preimplantation diagnosis (GPD), the prenatal diagnosis and the molecular diagnosis of the mutations that cause haemophilia, are realized in isolated investigations (researches) in order to do primary prevention, provide advise to the carriers of the disease and their families, which has allowed to bring to the world children free of this disease and also to improve the quality of life of the affected ones. The hopeful procedures in gene therapy (GT) have shown great effectiveness. The intention is to achieve the normal production of the protein which is absent or it is altered in the affected ones, but at the moment the tests carried out in human beings are stopped. Here are other alternate therapies that although are in phase of investigation, would allow to obtain a production of protein to long term and which have been developed thanks to the understanding of the molecular nature of the coagulation factors. © 2007 Corporación Editora Médica del Valle.eng
dc.format.mimetypeapplication/pdf
dc.identifier.issn16579534
dc.identifier.issn01208322
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23717
dc.language.isoengspa
dc.publisherUniversidad del Valle-Facultad de Saludspa
dc.relation.citationEndPage315
dc.relation.citationIssueNo. 3
dc.relation.citationStartPage308
dc.relation.citationTitleColombia Medica
dc.relation.citationVolumeVol. 38
dc.relation.ispartofColombia Medica, ISSN:16579534, 01208322, Vol.38, No.3 (2007); pp. 308-315spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-34548670523&partnerID=40&md5=a0e174a80d66c541bd8a2f399674d233spa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordBlood clotting factor 8spa
dc.subject.keywordBlood clotting factor 9spa
dc.subject.keywordImmunosuppressive agentspa
dc.subject.keywordParvovirus vectorspa
dc.subject.keywordClinical trialspa
dc.subject.keywordDiagnostic valuespa
dc.subject.keywordDrug efficacyspa
dc.subject.keywordFluorescence in situ hybridizationspa
dc.subject.keywordGene mutationspa
dc.subject.keywordGene transferspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordHemophiliaspa
dc.subject.keywordHemophilia aspa
dc.subject.keywordHemophilia bspa
dc.subject.keywordHeterozygotespa
dc.subject.keywordHumanspa
dc.subject.keywordImmunoadsorptionspa
dc.subject.keywordNonhumanspa
dc.subject.keywordPlasmapheresisspa
dc.subject.keywordPolymerase chain reactionspa
dc.subject.keywordPrenatal diagnosisspa
dc.subject.keywordPrimary preventionspa
dc.subject.keywordPromoter regionspa
dc.subject.keywordQuality of lifespa
dc.subject.keywordReviewspa
dc.subject.keywordShort tandem repeatspa
dc.subject.keywordSingle strand conformation polymorphismspa
dc.subject.keywordSouthern blottingspa
dc.subject.keywordStem cell transplantationspa
dc.subject.keywordUnspecified side effectspa
dc.subject.keywordViral gene therapyspa
dc.subject.keywordX chromosomespa
dc.subject.keywordGeneticsspa
dc.subject.keywordHemophiliaspa
dc.subject.keywordTherapyspa
dc.titleHemophilia: Molecular diagnosis and alternatives of treatmentspa
dc.title.TranslatedTitleHemofilia: Diagnóstico molecular y alternativas de tratamientospa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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