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Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.

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Title: Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
Authors: Alonso-Castellano P; Universidad Las Palmas Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: pabloalonsoc1997@gmail.com., Tugores A; Unidad Apoyo Investigación, CHUIMI, Las Palmas de Gran Canaria, Spain. Electronic address: atugores@yahoo.com., Mariño Z; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: zmarino@clinic.cat., Olveira A; Servicio Digestivo, Hospital Universitario La Paz, Madrid, Spain. Electronic address: aolveiram@gmail.com., Berenguer M; Hospital Universitari i Politècnic La Fe, IISLaFe, Universidad de Valencia y Ciberehd, Valencia, Spain. Electronic address: marina.berenguer@uv.es., Huarte MP; Complejo Hospitalario de Navarra, Pamplona, Spain. Electronic address: phuartem@navarra.es., Fernández-Ramos JR; Hospital Universitario de Cruces, Baracaldo, Spain. Electronic address: joseramon.fernandezramos@osakidetza.eus., Lázaro-Ríos M; Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: marialazarorios@hotmail.com., González-Diéguez ML; Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: luisagondi@hotmail.com., Moreno-Planas JM; Servicio de Aparato Digestivo, Complejo Hospitalario Universitario de Albacete, Facultad de Medicina Universidad de Castilla La Mancha, Spain. Electronic address: josemariamoren@yahoo.es., Hernández-Guerra M; Hospital Universitario de Canarias, Santa Cruz Tenerife, Spain. Electronic address: mhernand@ull.edu.es., Fernández-Álvarez P; Hospital Universitario Virgen Macarena, Sevilla, Spain. Electronic address: paulafer7@gmail.com., Delgado-Blanco M; Hospital Universitario A Coruña, A Coruña, Spain. Electronic address: manuel.delgado.blanco@sergas.es., Pinazo-Bandera JM; Unidad de Hepatología, Unidad de Gestión Clínica de Aparato Digestivo, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga-Plataforma Bionand, Málaga, Spain. Electronic address: Josepinazo@hotmail.es., Romero M; Hospital Universitario de Toledo, Toledo, Spain. Electronic address: m.romero.gutierrez@gmail.com., Ampuero J; Hospital Universitario Virgen del Rocío, Sevilla, Spain. Electronic address: jampuero-ibis@us.es., Masnou-Ridaura H; Hospital UniversitariGermansTrias i Pujol, Badalona, Spain. Electronic address: hmasnou.germanstrias@gencat.cat., Cachero A; Hospital Universitario de Bellvitge, Hospitalet de Llobregat, Spain. Electronic address: alba.cachero@bellvitgehospital.cat., Vargas V; LiverUnit, Hospital Vall d'Hebron, Universitat Autónoma Barcelona, CIBERehd, Barcelona, Spain. Electronic address: victor.vargas@uab.cat., Gómez-Camarero J; Hospital Universitario de Burgos, Burgos, Spain. Electronic address: jgomcam@hotmail.com., Morillas-Ariño MJ; Hospital Universitario Virgen de la Luz, Cuenca, Spain. Electronic address: Julmorar@hotmail.com., Molina-Pérez E; Hospital Clínico de Santiago, Santiago de Compostela, Spain. Electronic address: esther.molina.perez@sergas.es., Miralpeix A; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: amiralpeix@recerca.clinic.cat., García-Villarreal L; Grupo de Investigación Patología Médica, Instituto de Investigaciones Biomédicas y Sanitarias. Universidad de Las Palmas de Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: lgarciavillarreal@gmail.com.
Corporate Authors: Spanish Wilson Registry AEEH
Source: Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver [Dig Liver Dis] 2025 Feb; Vol. 57 (2), pp. 443-449. Date of Electronic Publication: 2024 Sep 24.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 100958385 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-3562 (Electronic) Linking ISSN: 15908658 NLM ISO Abbreviation: Dig Liver Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Low penetrance of frequent ATP7B mutations explains the low prevalence of Wilson disease. Lessons from real-life registries.
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  Data: <searchLink fieldCode="AU" term="%22Alonso-Castellano+P%22">Alonso-Castellano P</searchLink>; Universidad Las Palmas Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: pabloalonsoc1997@gmail.com.<br /><searchLink fieldCode="AU" term="%22Tugores+A%22">Tugores A</searchLink>; Unidad Apoyo Investigación, CHUIMI, Las Palmas de Gran Canaria, Spain. Electronic address: atugores@yahoo.com.<br /><searchLink fieldCode="AU" term="%22Mariño+Z%22">Mariño Z</searchLink>; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: zmarino@clinic.cat.<br /><searchLink fieldCode="AU" term="%22Olveira+A%22">Olveira A</searchLink>; Servicio Digestivo, Hospital Universitario La Paz, Madrid, Spain. Electronic address: aolveiram@gmail.com.<br /><searchLink fieldCode="AU" term="%22Berenguer+M%22">Berenguer M</searchLink>; Hospital Universitari i Politècnic La Fe, IISLaFe, Universidad de Valencia y Ciberehd, Valencia, Spain. Electronic address: marina.berenguer@uv.es.<br /><searchLink fieldCode="AU" term="%22Huarte+MP%22">Huarte MP</searchLink>; Complejo Hospitalario de Navarra, Pamplona, Spain. Electronic address: phuartem@navarra.es.<br /><searchLink fieldCode="AU" term="%22Fernández-Ramos+JR%22">Fernández-Ramos JR</searchLink>; Hospital Universitario de Cruces, Baracaldo, Spain. Electronic address: joseramon.fernandezramos@osakidetza.eus.<br /><searchLink fieldCode="AU" term="%22Lázaro-Ríos+M%22">Lázaro-Ríos M</searchLink>; Hospital Universitario Miguel Servet, Zaragoza, Spain. Electronic address: marialazarorios@hotmail.com.<br /><searchLink fieldCode="AU" term="%22González-Diéguez+ML%22">González-Diéguez ML</searchLink>; Hospital Universitario Central de Asturias, Oviedo, Spain. Electronic address: luisagondi@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Moreno-Planas+JM%22">Moreno-Planas JM</searchLink>; Servicio de Aparato Digestivo, Complejo Hospitalario Universitario de Albacete, Facultad de Medicina Universidad de Castilla La Mancha, Spain. Electronic address: josemariamoren@yahoo.es.<br /><searchLink fieldCode="AU" term="%22Hernández-Guerra+M%22">Hernández-Guerra M</searchLink>; Hospital Universitario de Canarias, Santa Cruz Tenerife, Spain. Electronic address: mhernand@ull.edu.es.<br /><searchLink fieldCode="AU" term="%22Fernández-Álvarez+P%22">Fernández-Álvarez P</searchLink>; Hospital Universitario Virgen Macarena, Sevilla, Spain. Electronic address: paulafer7@gmail.com.<br /><searchLink fieldCode="AU" term="%22Delgado-Blanco+M%22">Delgado-Blanco M</searchLink>; Hospital Universitario A Coruña, A Coruña, Spain. Electronic address: manuel.delgado.blanco@sergas.es.<br /><searchLink fieldCode="AU" term="%22Pinazo-Bandera+JM%22">Pinazo-Bandera JM</searchLink>; Unidad de Hepatología, Unidad de Gestión Clínica de Aparato Digestivo, Hospital Universitario Virgen de la Victoria, Instituto de Investigación Biomédica de Málaga-Plataforma Bionand, Málaga, Spain. Electronic address: Josepinazo@hotmail.es.<br /><searchLink fieldCode="AU" term="%22Romero+M%22">Romero M</searchLink>; Hospital Universitario de Toledo, Toledo, Spain. Electronic address: m.romero.gutierrez@gmail.com.<br /><searchLink fieldCode="AU" term="%22Ampuero+J%22">Ampuero J</searchLink>; Hospital Universitario Virgen del Rocío, Sevilla, Spain. Electronic address: jampuero-ibis@us.es.<br /><searchLink fieldCode="AU" term="%22Masnou-Ridaura+H%22">Masnou-Ridaura H</searchLink>; Hospital UniversitariGermansTrias i Pujol, Badalona, Spain. Electronic address: hmasnou.germanstrias@gencat.cat.<br /><searchLink fieldCode="AU" term="%22Cachero+A%22">Cachero A</searchLink>; Hospital Universitario de Bellvitge, Hospitalet de Llobregat, Spain. Electronic address: alba.cachero@bellvitgehospital.cat.<br /><searchLink fieldCode="AU" term="%22Vargas+V%22">Vargas V</searchLink>; LiverUnit, Hospital Vall d'Hebron, Universitat Autónoma Barcelona, CIBERehd, Barcelona, Spain. Electronic address: victor.vargas@uab.cat.<br /><searchLink fieldCode="AU" term="%22Gómez-Camarero+J%22">Gómez-Camarero J</searchLink>; Hospital Universitario de Burgos, Burgos, Spain. Electronic address: jgomcam@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Morillas-Ariño+MJ%22">Morillas-Ariño MJ</searchLink>; Hospital Universitario Virgen de la Luz, Cuenca, Spain. Electronic address: Julmorar@hotmail.com.<br /><searchLink fieldCode="AU" term="%22Molina-Pérez+E%22">Molina-Pérez E</searchLink>; Hospital Clínico de Santiago, Santiago de Compostela, Spain. Electronic address: esther.molina.perez@sergas.es.<br /><searchLink fieldCode="AU" term="%22Miralpeix+A%22">Miralpeix A</searchLink>; LiverUnit, Hospital Clínic, Universitat de Barcelona, Barcelona, Spain. Electronic address: amiralpeix@recerca.clinic.cat.<br /><searchLink fieldCode="AU" term="%22García-Villarreal+L%22">García-Villarreal L</searchLink>; Grupo de Investigación Patología Médica, Instituto de Investigaciones Biomédicas y Sanitarias. Universidad de Las Palmas de Gran Canaria. Servicio Digestivo, Complejo Hospitalario Universitario Insular Materno Infantil (CHUIMI), Las Palmas de Gran Canaria, Spain. Electronic address: lgarciavillarreal@gmail.com.
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