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Identificador persistente para citar o vincular este elemento: https://accedacris.ulpgc.es/handle/10553/139844
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dc.contributor.authorAlonso Castellano, Pabloen_US
dc.contributor.authorMariño, Zoeen_US
dc.contributor.authorTugores, Antonioen_US
dc.contributor.authorOlveira, Antonioen_US
dc.contributor.authorAmpuero, Javieren_US
dc.contributor.authorBerenguer, Marinaen_US
dc.contributor.authorFernández-Ramos, José Ramónen_US
dc.contributor.authorMoreno-Planas, José Maríaen_US
dc.contributor.authorLázaro-Ríos, Maríaen_US
dc.contributor.authorMasnou, Helenaen_US
dc.contributor.authorGonzález-Diéguez, María Luisaen_US
dc.contributor.authorPinazo-Bandera, José Maríaen_US
dc.contributor.authorMolina-Pérez, Estheren_US
dc.contributor.authorHernández-Guerra, Manuelen_US
dc.contributor.authorRomero-Gutiérrez, Martaen_US
dc.contributor.authorFernández-Álvarez, Paulaen_US
dc.contributor.authorMuñoz, Carolinaen_US
dc.contributor.authorLorente, Saraen_US
dc.contributor.authorCachero, Albaen_US
dc.contributor.authorDelgado-Blanco, Manuelen_US
dc.contributor.authorVargas, Víctoren_US
dc.contributor.authorGómez-Camarero, Judithen_US
dc.contributor.authorCuenca, Franciscaen_US
dc.contributor.authorIbáñez-Samaniego, Luisen_US
dc.contributor.authorFernández-Bermejo, Miguelen_US
dc.contributor.authorÁlvarez-Suárez, Beatrizen_US
dc.contributor.authorIruzubieta, Paulaen_US
dc.contributor.authorArencibia-Almeida, Anaen_US
dc.contributor.authorGarcía-Villarreal, Luisen_US
dc.date.accessioned2025-06-10T14:52:51Z-
dc.date.available2025-06-10T14:52:51Z-
dc.date.issued2025en_US
dc.identifier.issn1130-0108en_US
dc.identifier.otherScopus-
dc.identifier.urihttps://accedacris.ulpgc.es/handle/10553/139844-
dc.description.abstractWilson disease (WD) is a rare genetic disease secondary to mutations in the ATP7B gene, which encodes a protein involved in copper excretion. There are more than 1000 different mutations among patients and diagnosis is sometimes difficult. Without treatment, WD leads to death but there are therapies that are so effective and offer a normal life to patients, if started early. Every population shows different mutations, so a genetic map of every country is very important for patients and physicians, to reach early diagnosis and therapy with the best prognosis for patients.en_US
dc.languageengen_US
dc.relation.ispartofRevista Espanola de Enfermedades Digestivasen_US
dc.sourceRevista Espanola de Enfermedades Digestivas[ISSN 1130-0108],v. 117 (5), p. 249-255, (Enero 2025)en_US
dc.subject32 Ciencias médicasen_US
dc.subject320601 Digestiónen_US
dc.subject320102 Genética clínicaen_US
dc.subject.otherAtp7B Geneen_US
dc.subject.otherGenetic Screeningen_US
dc.subject.otherMisdiagnosisen_US
dc.subject.otherRare Diseaseen_US
dc.titleGenetic map of Wilson disease in Spain – A great tool to improve diagnosis and screeningen_US
dc.typeinfo:eu-repo/semantics/Articleen_US
dc.typeArticleen_US
dc.identifier.doi10.17235/reed.2025.11005/2024en_US
dc.identifier.scopus105006715149-
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dc.contributor.authorscopusid59340447600-
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dc.description.lastpage255en_US
dc.identifier.issue5-
dc.description.firstpage249en_US
dc.relation.volume117en_US
dc.investigacionCiencias de la Saluden_US
dc.type2Artículoen_US
dc.description.numberofpages7en_US
dc.utils.revisionSíen_US
dc.date.coverdateEnero 2025en_US
dc.identifier.ulpgcSíen_US
dc.contributor.buulpgcBU-MEDen_US
dc.description.sjr0,324
dc.description.jcr2,7
dc.description.sjrqQ3
dc.description.jcrqQ2
dc.description.scieSCIE
dc.description.miaricds11,0
item.grantfulltextopen-
item.fulltextCon texto completo-
crisitem.author.deptGIR IUIBS: Diabetes y endocrinología aplicada-
crisitem.author.deptIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.orcid0000-0002-1849-9239-
crisitem.author.parentorgIU de Investigaciones Biomédicas y Sanitarias-
crisitem.author.fullNameAlonso Castellano, Pablo-
crisitem.author.fullNameTugores Céster, Antonio-
Colección:Artículos
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