Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/24427
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dc.contributor.authorOrtiz-Cabrera, N V
dc.contributor.authorGallego-Merlo, J
dc.contributor.authorVélez-Monsalve, C
dc.contributor.authorde Nicolas, R
dc.contributor.authorMas, S Fontao
dc.contributor.authorAyuso, C
dc.contributor.authorTrujillo-Tiebas, M J
dc.date.accessioned2019-06-28T14:12:25Z-
dc.date.available2019-06-28T14:12:25Z-
dc.date.issued2016-12
dc.identifier.citationMol Genet Metab Rep.2016 Dec;(9):79-85
dc.identifier.issn2214-4269
dc.identifier.urihttps://hdl.handle.net/20.500.12530/24427-
dc.description.abstractFundación Jiménez Díaz (FJD) is a reference center for genetic diagnosis of Gaucher disease (GD) in Spain. Genetic analyses of acid β-glucosidase (GBA) gene using different techniques were performed to search for new mutations, in addition to those previously and most frequently found in the Spanish population. Additionally, the study of the chitotriosidase (CHIT1) gene was used to assess the inflammatory status of patients in the follow-up of enzyme replacement therapy (ERT). We present the genetic data gathered during the last nine years at FJD.
dc.language.isoeng
dc.rightsopenAccess-
dc.subjectChitotriosidase
dc.subjectERT, enzyme replacement therapy
dc.subjectFJD, Fundación Jiménez Díaz
dc.subjectGBA gene
dc.subjectGBA, acid β-glucosidase
dc.subjectGD, Gaucher disease
dc.subjectGaucher disease
dc.subjectSpanish Gaucher disease
dc.titleNine-year experience in Gaucher disease diagnosis at the Spanish reference center Fundación Jiménez Díaz.
dc.typeArtículo
dc.identifier.pubmedID27872820
dc.format.volume9
dc.format.page79-85
dc.identifier.journalMolecular genetics and metabolism reports
dc.identifier.doi10.1016/j.ymgmr.2016.06.008
dc.identifier.pmcPMC5109262
dc.pubmedtypeJournal Article
Appears in Collections:Hospitales > H. U. Clínico San Carlos > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Clínico San Carlos > Artículos

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