• A quick diagnosis unit as an alternative to conventional hospitalization in a tertiary public hospital: a descriptive study 

      Sanclemente-Ansó, Carmen; Salazar Soler, Albert; Bosch, Xavier; Capdevila, Cristina; Vallano, Antoni; Català, Isabel; Fernandez‑Alarza, Antonio F.; Rosón-Hernández, Beatriz; Corbella Virós, Xavier (Polish Archives of Internal Medicine, 2013-09-24)
      Introduction: Reports indicate that a significant number of patients admitted to internal medicine units could be studied on an outpatient basis. Objectives: This article assesses a quick diagnosis unit ...
    • CoDysAn: a telemedicine tool to improve awareness and diagnosis for patients with congenital dyserythropoietic anemia 

      Tornador, Cristian; Sánchez-Prados, Edgar; Cadenas, Beatriz; Russo, Roberta; Venturi, Veronica; León Llorente, Consuelo; Hernández-Rodriguez, Ines; iolascon, achille; Sanchez-Fernandez, Mayka (Frontiers in Physiology, 2019)
      Congenital Dyserythropoietic Anemia (CDA) is a heterogeneous group of hematological disorders characterized by chronic hyporegenerative anemia and distinct morphological abnormalities of erythroid ...
    • Cost-minimization analysis favours intravenous ferric carboxymaltose over ferric sucrose or oral iron as preoperative treatment in patients with colon cancer and iron deficiency anaemia 

      Calvet, Xavier; Gené Tous, Emilio Miguel; Ruíz, Miquel Àngel; Figuerola, Ariadna; Villoria, Albert; Cucala, Mercedes; Mearin, Fermín; Delgado, Salvadora; Calleja, Jose Luis (Technology and Health Care, 2016)
      Background: Ferric Carboxymaltose (FCM), Iron Sucrose (IS) and Oral Iron (OI) are alternative treatments for preoper-ative anaemia. Objective: To compare the cost implications, using a cost-minimization ...
    • 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-Fernandez, 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 ...
    • Matriptase-2 mutations in iron-refractory iron deficiency anemia patients provide new insights into protease activation mechanisms 

      Ramsay, Andrew J.; Quesada, Victor; Sanchez, Mayka; Garabaya, Cecilia; Sardà, María P.; Baiget, Montserrat; Remacha, Angel; Velasco, Gloria; López-Otín, Carlos (Human Molecular Genetics, 2009)
      Mutations leading to abrogation of matriptase-2 proteolytic activity in humans are associated with an iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin levels. Here we describe two ...
    • Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 

      Iolascon, Achille; León Llorente, Consuelo; Russo, Roberta; Sanchez-Fernandez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou-Fakhredin, Rayan; Ferrer, Xènia; Unal, Sule; Porto, Graça; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali; EHA-SWG Red Cell and Iron (HemaSphere, 2024)
      Iron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very efficiently, losing less than 0.1% of their ...
    • Recommendations for diagnosis, treatment, and prevention of iron deficiency and iron deficiency anemia 

      Iolascon, Achille; León Llorente, Consuelo; Russo, Roberta; Sanchez-Fernandez, Mayka; Busti, Fabiana; Swinkels, Dorine; Aguilar Martinez, Patricia; Bou‐Fakhredin, Rayan; Muckenthaler, Martina U.; Unal, Sule; Porto, Graça; Ganz, Tomas; Kattamis, Antonis; De Franceschi, Lucia; Cappellini, Maria Domenica; Munro, Malcolm G.; Taher, Ali (Hemasphere, 2024)
      Iron is an essential nutrient and a constituent of ferroproteins and enzymes crucial for human life. Generally, nonmenstruating individuals preserve iron very efficiently, losing less than 0.1% of their ...
    • The use of next-generation sequencing in the diagnosis of rare inherited anaemias: a joint BSH/EHA good practice paper 

      Roy, Noémi B. A.; Da Costa, Lydie; Russo, Roberta; Bianchi, Paola; Mañú-Pereira, Maria del Mar; Fermo, Elisa; León Llorente, Consuelo; Clark, Barnaby; Proven, Melanie; Sanchez-Fernandez, Mayka; Van Wijk, Richard; Van der Zwaag, Bert; Layton, Mark; Rees, David; Iolascon, Achille; British Society for Haematology/ European Hematology Association (British Journal of Haematology, 2022)
      The British Society for Haematology (BSH) produces Good Practice Papers to recommend good practice in areas where there is a limited evidence base but for which a degree of consensus or uniformity is ...