Browsing Ciències de la Salut by Subject "Malaltia neurodegenerativa"

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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 (International Journal of Molecular Sciences, 2020)
      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 ...

    • L-ferritin: one gene, five diseases; from hereditary hyperferritinemia to hypoferritinemia - report of new cases 

      Cadenas, Beatriz; Fita-Torró, Josep; Bermúdez-Cortés, Mar; Hernandez-Rodriguez, Inés; Fuster, José Luis; Llinares, María Esther; Galera, Ana María; Lee Romero, Julia; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez, Mayka (Pharmaceuticals, 2019)
      Ferritin is a multimeric protein composed of light (L-ferritin) and heavy (H-ferritin) subunits that binds and stores iron inside the cell. A variety of mutations have been reported in the L-ferritin ...