Guía clínica: consenso para Chile en enfermedad de Fabry

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dc.contributor.authorVaras M, C.
dc.contributor.authorGómez, G.
dc.contributor.authorMorales T, M.
dc.contributor.authorMolt C, F.
dc.contributor.authorCabello A, J. F.
dc.contributor.authorAlcántara P, A.
dc.contributor.authorDowney Concha, Patricio
dc.contributor.authorBarría M, C.
dc.contributor.authorÁlvarez C, M.
dc.contributor.authorVillarroel S, C.
dc.contributor.authorPonce M, J. C.
dc.contributor.authorCortés M, F.
dc.contributor.authorMoraga U, S.
dc.contributor.authorPeredo O, P.
dc.date.accessioned2020-01-12T03:01:49Z
dc.date.available2020-01-12T03:01:49Z
dc.date.issued2012
dc.description.abstractFabry's disease is an X-linked recessive inborn error of metabolism of glycosphingolipids, caused by the deficiency of the lisosomal enzyme alpha-galactosidase. It is a rare disease with an estimated incidence rate of approximately 1:80.000 to 1:117,000 births in the general population. Recently, the growing knowledge about this disease has permitted the development of enzyme replacement therapy, which has modified the prognosis and quality of life of these patients. In Chile, the real incidence is unknown, but the increase in the number of patients diagnosed during the last five years, mainly in the north of the country. This guide was prepared with the intention of establishing a consensus for the diagnosis, treatment and monitoring of the patients with Fabry disease based on the present available scientific evidence.
dc.format.extent10 páginas
dc.fuente.origenFacultad de Medicina
dc.identifier.doi10.4067/S0717-92272012000300009
dc.identifier.issn0717-9227
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/27290
dc.issue.numeroNo. 3
dc.language.isoes
dc.nota.accesoContenido completo
dc.pagina.final201
dc.pagina.inicio191
dc.revistaRevista chilena de neuro-psiquiatríaes_ES
dc.rightsacceso abierto
dc.subjectFabry disease, alpha-galactosidase Aes_ES
dc.subjectX-linked recessive inheritancees_ES
dc.subjectEnzyme replacement therapyes_ES
dc.subjectEnfermedad de Fabryes_ES
dc.subjectalfa-galactosidasa Aes_ES
dc.subjectterapia de reemplazo enzimáticoes_ES
dc.subjectPsychiatryes_ES
dc.subjectNeuroscienceses_ES
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleGuía clínica: consenso para Chile en enfermedad de Fabryes_ES
dc.typeartículo de revisión
dc.volumenVol. 50
sipa.codpersvinculados68164
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