Genetic and clinical heterogeneity in thirteen new cases with aceruloplasminemia. Atypical anemia as a clue for an early diagnosis

This work was partially supported by grant SAF2015-70412-R from the Spanish Secretary of Research, Development, and Innovation (MINECO) Spain to M.S., grants for research on iron metabolism by Fondazione Cariverona (2014.0851), and the Veneto Region (PRIHTA no.2014-00000451) to D.G., grants 2014/009...

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Detalles Bibliográficos
Autores: 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-Fernandez, Mayka
Tipo de recurso: artículo
Fecha de publicación:2020
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:20.500.12328/3075
Acceso en línea:http://hdl.handle.net/20.500.12328/3075
https://dx.doi.org/10.3390/ijms21072374
Access Level:acceso abierto
Palabra clave:Aceruloplasminèmia
Ceruloplasmina
Metabolisme del ferro
Malaltia neurodegenerativa
Anèmia
Ferritina
Aceruloplasminemia
Metabolismo del hierro
Enfermedad neurodegenerativa
Anemia
Ceruloplasmin
Iron metabolism
Neurodegenerative disease
Ferritin
61
616.8
Descripción
Sumario:This work was partially supported by grant SAF2015-70412-R from the Spanish Secretary of Research, Development, and Innovation (MINECO) Spain to M.S., grants for research on iron metabolism by Fondazione Cariverona (2014.0851), and the Veneto Region (PRIHTA no.2014-00000451) to D.G., grants 2014/00984-3 and 2016/08072-9 from Fundação de Apoio à Pesquisa do Estado de São Paulo (FAPESP) to K.Y.F. and M.D.B., respectively.

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