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Fabry's disease: New concepts about its natural history, evolution and treatment, in relation to the findings of the Fabry Registry

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dc.creatorPolitei J.M.spa
dc.creatorCabello J.F.spa
dc.creatorVillalobos J.spa
dc.creatorValadez G.spa
dc.creatorLoaeza A.spa
dc.creatorLinares A.spa
dc.creatorMartins A.M.spa
dc.date.accessioned2020-05-25T23:59:53Z
dc.date.available2020-05-25T23:59:53Z
dc.date.created2009spa
dc.description.abstractFabry disease is an inherited lysosomal storage disease caused by deficient activity of the lysosomal enzyme, ?-galactosidase A . Currently, enzyme replacement therapy (ERT) is the specific treatment and it is demonstrated that the early use of it modifies the natural history of the disease. The Fabry Registry is a global, observational, and voluntary program designed to collect clinical data related to the onset, progression, and treatment of Fabry disease. Objective: To assess the natural history, evolution and treatment of Fabry disease. Material and methods: Results: The first symptoms started during childhood with onset occurring at 6 years old in boys and 9 in girls. The average age of diagnosis was at 25 and 32 in male and female respectively. Women involvement was more frequent than previously thought. The average age of the first stroke was at 39 years old in males and 45.7 in females. Conclusion: This analysis of the characteristics of the disease contributes to the growing evidence that Fabry disease starts at childhood, affects both genders and requires a multidisciplinary follow up. An improvement in the knowledge of the natural history of the disorder will get a better rate of suspiciousness in the medical community and an earlier diagnosis and treatment.eng
dc.format.mimetypeapplication/pdf
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/23126
dc.language.isoengspa
dc.publisherAsociacion Regional de Dialisi y Transplantes Renales de Capital Federal y Provincia de Buenos Airesspa
dc.relation.citationEndPage152
dc.relation.citationIssueNo. 4
dc.relation.citationStartPage145
dc.relation.citationTitleRevista de Nefrologia
dc.relation.citationVolumeVol. 29
dc.relation.ispartofRevista de Nefrologia, Dialisis y Trasplante, Vol.29, No.4 (2009); pp. 145-152spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-77949747269&partnerID=40&md5=e65473ac0ae452ae2deeb608356a077aspa
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.keywordAgalsidase betaspa
dc.subject.keywordAlpha galactosidasespa
dc.subject.keywordAdultspa
dc.subject.keywordAge distributionspa
dc.subject.keywordArticlespa
dc.subject.keywordDisease coursespa
dc.subject.keywordEarly diagnosisspa
dc.subject.keywordEnzyme replacementspa
dc.subject.keywordEthnicityspa
dc.subject.keywordFabry diseasespa
dc.subject.keywordFamily historyspa
dc.subject.keywordFemalespa
dc.subject.keywordHumanspa
dc.subject.keywordLysosome storage diseasespa
dc.subject.keywordMajor clinical studyspa
dc.subject.keywordMalespa
dc.subject.keywordOnset agespa
dc.subject.keywordSex ratiospa
dc.subject.keywordFabry diseasespa
dc.subject.keywordFabry registryspa
dc.subject.keywordLysosomal diseasesspa
dc.titleFabry's disease: New concepts about its natural history, evolution and treatment, in relation to the findings of the Fabry Registryspa
dc.title.TranslatedTitleEnfermedad de Fabry: Nuevos conceptos en su historia natural, evolución y tratamiento, en relación a los hallazgos del Registro Fabryspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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