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Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.
Vila Cuenca, Marc; Marchi, Giacomo; Barqué, Anna; Esteban-Jurado, Clara; Marchetto, Alessandro; Giorgetti, Alejandro; Chelban, Viorica; Houlden, Henry; Wood, Nicholas W; Piubelli, Chiara; Dorigatti Borges, Marina; Martins de Albuquerque, Dulcinéia; Yotsumoto Fertrin, Kleber; Jové-Buxeda, Ester; Sanchez-Delgado, Jordi; Baena-Díez, Neus; Burnyte, Birute; Utkus, Algirdas; Busti, Fabiana; Kaubrys, Gintaras; Suku, Eda; Kowalczyk, Kamil; Karaszewski, Bartosz; Porter, John B; Pollard, Sally; Eleftheriou, Perla; Bignell, Patricia; Girelli, Domenico; Sanchez, Mayka.
  • Vila Cuenca M; Iron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Marchi G; EuroBloodNet Referral Center for Iron Disorders and Gruppo Interdisciplinare Malattie del Ferro, Internal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.
  • Barqué A; Iron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Esteban-Jurado C; Iron Metabolism: Regulation and Diseases Group, Josep Carreras Leukaemia Research Institute (IJC), Campus Can Ruti, Badalona, 08916 Barcelona, Spain.
  • Marchetto A; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
  • Giorgetti A; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
  • Chelban V; National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Houlden H; Department of Neuromuscular Diseases, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Wood NW; Department of Neurology and Neurosurgery, Institute of Emergency Medicine, Toma Ciorba 1, Chisinau, MD-2052 Chisinau, Republic of Moldova.
  • Piubelli C; National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Dorigatti Borges M; Department of Neuromuscular Diseases, Institute of Neurology, University College London, London WC1N 3BG, UK.
  • Martins de Albuquerque D; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Yotsumoto Fertrin K; National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Jové-Buxeda E; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.
  • Sanchez-Delgado J; Centre for Tropical Diseases, Ospedale Sacro Cuore - Don Calabria, 37024 Negrar (VR), Italy.
  • Baena-Díez N; Hematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.
  • Burnyte B; Hematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.
  • Utkus A; Hematology and Hemotherapy Center-Hemocentro Campinas, University of Campinas-UNICAMP, Campinas 13083-878, Brazil.
  • Busti F; Division of Hematology, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
  • Kaubrys G; Internal Medicine Department, Parc Tauli Hospital Universitari, Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.
  • Suku E; Hepatology Unit, Digestive Diseases Department, Parc Tauli Hospital Universitari. Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.
  • Kowalczyk K; Centro de Investigación Biomedica y en red Enfermedades hepáticas y digestivas (CIBERehd), Instituto de Salud Carlos III, 28029 Madrid, Spain.
  • Karaszewski B; Genetic Department, Parc Tauli Hospital Universitari, Institut d' Investigació i Innovació Parc Tauli I3PT, Universidad Autonoma de Barcelona, 08208 Sabadell, Spain.
  • Porter JB; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Pollard S; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania.
  • Eleftheriou P; EuroBloodNet Referral Center for Iron Disorders and Gruppo Interdisciplinare Malattie del Ferro, Internal Medicine Unit, Azienda Ospedaliera Universitaria Integrata di Verona, 37134 Verona, Italy.
  • Bignell P; Clinic of Neurology and Neurosurgery, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
  • Girelli D; Department of Biotechnology, University of Verona, 37134 Verona, Italy.
  • Sanchez M; Department of Adult Neurology, Medical University of Gdansk, 80-210 Gdansk, Poland.
Int J Mol Sci ; 21(7)2020 Mar 30.
Article en En | MEDLINE | ID: mdl-32235485
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ceruloplasmina / Trastornos del Metabolismo del Hierro / Enfermedades Neurodegenerativas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Ceruloplasmina / Trastornos del Metabolismo del Hierro / Enfermedades Neurodegenerativas Tipo de estudio: Diagnostic_studies / Prognostic_studies / Screening_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Año: 2020 Tipo del documento: Article