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14 p, 1.2 MB Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis / Vila Cuenca, Marc (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Marchi, Giacomo (Azienda Ospedaliera Universitaria Integrata di Verona) ; Barqué, Anna (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Esteban-Jurado, Clara (Institut Germans Trias i Pujol. Institut de Recerca contra la Leucèmia Josep Carreras) ; Marchetto, Alessandro (University of Verona) ; Giorgetti, Alejandro (Department of Biotechnology, University of Verona) ; Chelban, Viorica (National Hospital for Neurology and Neurosurgery, London) ; Houlden, Henry (National Hospital for Neurology and Neurosurgery, London) ; Wood, Nicholas W.. (National Hospital for Neurology and Neurosurgery, London) ; Piubelli, Chiara (Centre for Tropical Diseases, Ospedale Sacro Cuore - Don Calabria) ; Dorigatti Borges, Marina (University of Campinas-UNICAMP) ; Martins de Albuquerque, Dulcinéia (University of Campinas-UNICAMP) ; Yotsumoto Fertrin, Kleber (University of Campinas-UNICAMP) ; Jové-Buxeda, Ester (Universitat Autònoma de Barcelona. Departament de Medicina) ; Sánchez-Delgado, Jordi (Universitat Autònoma de Barcelona. Departament de Medicina) ; Baena Díez, Neus (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Burnyte, Birute (Vilnius University) ; Utkus, Algirdas (Vilnius University) ; Busti, Fabiana (Azienda Ospedaliera Universitaria Integrata di Verona) ; Kaubrys, Gintaras (Vilnius University) ; Suku, Eda (University of Verona) ; Kowalczyk, Kamil (Medical University of Gdańsk) ; Karaszewski, Bartosz (Medical University of Gdańsk) ; Porter, John B. (University College London NHS Foundation Trust) ; Pollard, Sally (Consultant Paediatrician, Bradford Royal Infirmary) ; Eleftheriou, Perla (University College London NHS Foundation Trust) ; Bignell, Patricia (Oxford University Hospitals NHS Foundation Trust) ; Girelli, Domenico (Azienda Ospedaliera Universitaria Integrata di Verona) ; Sánchez-Fernández, Mayka (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Aceruloplasminemia is a rare autosomal recessive genetic disease characterized by mild microcytic anemia, diabetes, retinopathy, liver disease, and progressive neurological symptoms due to iron accumulation in pancreas, retina, liver, and brain. [...]
2020 - 10.3390/ijms21072374
International journal of molecular sciences, Vol. 21 (march 2020)  

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