Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia
Rizzuto, Valeria, Mencattini, Arianna, Álvarez-González, Begoña, Di Giuseppe, Davide, Martinelli, Eugenio, Beneitez-Pastor, David, Mañú-Pereira, Maria del Mar, Lopez-Martinez, Maria José, Samitier, Josep
Published in Scientific reports (30.06.2021)
Published in Scientific reports (30.06.2021)
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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, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille
Published in British journal of haematology (01.08.2022)
Published in British journal of haematology (01.08.2022)
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Density, heterogeneity and deformability of red cells as markers of clinical severity in hereditary spherocytosis
Huisjes, Rick, Makhro, Asya, Llaudet-Planas, Esther, Hertz, Laura, Petkova-Kirova, Polina, Verhagen, Liesbeth P, Pignatelli, Silvia, Rab, Minke A E, Schiffelers, Raymond M, Seiler, Elena, van Solinge, Wouter W, Corrons, Joan-LLuis Vives, Kaestner, Lars, Mañú-Pereira, Maria, Bogdanova, Anna, van Wijk, Richard
Published in Haematologica (Roma) (01.02.2020)
Published in Haematologica (Roma) (01.02.2020)
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Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias
Petkova-Kirova, Polina, Hertz, Laura, Danielczok, Jens, Huisjes, Rick, Makhro, Asya, Bogdanova, Anna, Mañú-Pereira, Maria Del Mar, Vives Corrons, Joan-Lluis, van Wijk, Richard, Kaestner, Lars
Published in Frontiers in physiology (16.04.2019)
Published in Frontiers in physiology (16.04.2019)
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Journal Article
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, Mar Mañú‐Pereira, Maria, Fermo, Elisa, Andolfo, Immacolata, Clark, Barnaby, Proven, Melanie, Sanchez, Mayka, Wijk, Richard, Zwaag, Bert, Layton, Mark, Rees, David, Iolascon, Achille
Published in HemaSphere (01.06.2022)
Published in HemaSphere (01.06.2022)
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Red Cell Properties after Different Modes of Blood Transportation
Makhro, Asya, Huisjes, Rick, Verhagen, Liesbeth P, Mañú-Pereira, María Del Mar, Llaudet-Planas, Esther, Petkova-Kirova, Polina, Wang, Jue, Eichler, Hermann, Bogdanova, Anna, van Wijk, Richard, Vives-Corrons, Joan-Lluís, Kaestner, Lars
Published in Frontiers in physiology (15.07.2016)
Published in Frontiers in physiology (15.07.2016)
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Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?
Hertz, Laura, Huisjes, Rick, Llaudet-Planas, Esther, Petkova-Kirova, Polina, Makhro, Asya, Danielczok, Jens G, Egee, Stephane, Del Mar Mañú-Pereira, Maria, van Wijk, Richard, Vives Corrons, Joan-Lluis, Bogdanova, Anna, Kaestner, Lars
Published in Frontiers in physiology (06.09.2017)
Published in Frontiers in physiology (06.09.2017)
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A Previously Unrecognized Ca2+‐inhibited Nonselective Cation Channel in Red Blood Cells
Petkova‐Kirova, Polina, Hertz, Laura, Makhro, Asya, Danielczok, Jens, Huisjes, Rick, Llaudet‐Planas, Esther, Mañú‐Pereira, Maria del Mar, Vives Corrons, Joan‐Luis, Wijk, Richard, Bogdanova, Anna, Kaestner, Lars
Published in HemaSphere (01.10.2018)
Published in HemaSphere (01.10.2018)
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Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases
Rizzuto, Valeria, Koopmann, Tamara T, Blanco-Álvarez, Adoración, Tazón-Vega, Barbara, Idrizovic, Amira, Díaz de Heredia, Cristina, Del Orbe, Rafael, Pampliega, Miriam Vara, Velasco, Pablo, Beneitez, David, Santen, Gijs W E, Waisfisz, Quinten, Elting, Mariet, Smiers, Frans J W, de Pagter, Anne J, Kerkhoffs, Jean-Louis H, Harteveld, Cornelis L, Mañú-Pereira, Maria Del Mar
Published in Frontiers in physiology (05.02.2021)
Published in Frontiers in physiology (05.02.2021)
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Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency
Bianchi, Paola, Fermo, Elisa, Glader, Bertil, Kanno, Hitoshi, Agarwal, Archana, Barcellini, Wilma, Eber, Stefan, Hoyer, James D., Kuter, David J., Maia, Tabita Magalhães, Mañu‐Pereira, Maria del Mar, Kalfa, Theodosia A., Pissard, Serge, Segovia, José‐Carlos, van Beers, Eduard, Gallagher, Patrick G., Rees, David C., van Wijk, Richard
Published in American journal of hematology (01.01.2019)
Published in American journal of hematology (01.01.2019)
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Conference Proceeding
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies
Kountouris, Petros, Stephanou, Coralea, Archer, Natasha, Bonifazi, Fedele, Giannuzzi, Viviana, Kuo, Kevin H. M., Maggio, Aurelio, Makani, Julie, Mañú‐Pereira, María del Mar, Michailidou, Kyriaki, Nkya, Siana, Nnodu, Obiageli E., Trompeter, Sara, Tshilolo, Léon, Wonkam, Ambroise, Zilfalil, Bin Alwi, Inusa, Baba P. D., Kleanthous, Marina
Published in American journal of hematology (01.11.2021)
Published in American journal of hematology (01.11.2021)
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Machine learning microfluidic based platform: Integration of Lab-on-Chip devices and data analysis algorithms for red blood cell plasticity evaluation in Pyruvate Kinase Disease monitoring
Mencattini, A., Rizzuto, V., Antonelli, G., Di Giuseppe, D., D’Orazio, M., Filippi, J., Comes, M.C., Casti, P., Vives Corrons, J.L., Garcia-Bravo, M., Segovia, J.C., del Mar Mañú-Pereira, Maria, Lopez-Martinez, M.J., Samitier, J., Martinelli, E.
Published in Sensors and actuators. A. Physical. (01.03.2023)
Published in Sensors and actuators. A. Physical. (01.03.2023)
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Haemoglobinopathies in Europe: health & migration policy perspectives
Aguilar Martinez, Patricia, Angastiniotis, Michael, Eleftheriou, Androulla, Gulbis, Beatrice, Mañú Pereira, Maria Del Mar, Petrova-Benedict, Roumyana, Corrons, Joan-Lluis Vives
Published in Orphanet journal of rare diseases (01.07.2014)
Published in Orphanet journal of rare diseases (01.07.2014)
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Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed?
Horgan, Denis, Moss, Barbara, Boccia, Stefania, Genuardi, Maurizio, Gajewski, Maciej, Capurso, Gabriele, Fenaux, Pierre, Gulbis, Beatrice, Pellegrini, Mariangela, Mañú Pereira, Maria del Mar, Gutiérrez Valle, Victoria, Gutiérrez Ibarluzea, Iñaki , Kent, Alastair, Cattaneo, Ivana, Jagielska, Beata, Belina, Ivica, Tumiene, Birute, Ward, Adrian, Papaluca, Marisa
Published in Biomedicine hub (01.05.2020)
Published in Biomedicine hub (01.05.2020)
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Pathophysiology of Anemia in HIV-Infected Children Exposed to Malaria
Moraleda, Cinta, Aguilar, Ruth, Quintó, Llorenç, Nhampossa, Tacilta, Renom, Montserrat, Nhabomba, Augusto, Ruperez, María, Aponte, John J, Achtman, Ariel H, Mañú Pereira, María Del Mar, Schofield, Louis, Alonso, Pedro L, Macete, Eusebio, Menéndez, Clara
Published in The American journal of tropical medicine and hygiene (01.03.2021)
Published in The American journal of tropical medicine and hygiene (01.03.2021)
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Southeast Asian ovalocytosis detected in a critical patient with COVID‐19 pneumonia
Moreno‐Castaño, Ana Belén, Diaz‐Ricart, Maribel, Escolar, Ginés, García, Estefanía, Mañú‐Pereira, María del Mar, Idrizovic, Amira, Matute, Mónica, Molina, Angel, Faneca, Joana, Merino, Anna
Published in International journal of laboratory hematology (01.10.2022)
Published in International journal of laboratory hematology (01.10.2022)
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Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions
Galatas, Beatriz, Mabote, Lurdes, Simone, Wilson, Matambisso, Gloria, Nhamussua, Lidia, Mañú-Pereira, María Del Mar, Menéndez, Clara, Saute, Francisco, Macete, Eusebio, Bassat, Quique, Alonso, Pedro, Aide, Pedro
Published in Malaria journal (19.01.2017)
Published in Malaria journal (19.01.2017)
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The variable manifestations of disease in pyruvate kinase deficiency and their management
Al-Samkari, Hanny, van Beers, Eduard J, Kuo, Kevin H M, Barcellini, Wilma, Bianchi, Paola, Glenthøj, Andreas B, Mañú-Pereira, María, van Wijk, Richard, Glader, Bertil, Grace, Rachael F
Published in Haematologica (Roma) (01.09.2020)
Published in Haematologica (Roma) (01.09.2020)
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Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN‐EuroBloodNet
Collado, Anna, Boaro, Maria Paola, Veen, Sigrid, Idrizovic, Amira, Biemond, Bart J., Beneitez Pastor, David, Ortuño, Ana, Cela, Elena, Ruiz‐Llobet, Anna, Bartolucci, Pablo, Montalembert, Marianne, Castellani, Gastone, Biondi, Riccardo, Manara, Renzo, Sanavia, Tiziana, Fariselli, Piero, Kountouris, Petros, Kleanthous, Marina, Alvarez, Federico, Zazo, Santiago, Colombatti, Raffaella, Beers, Eduard J., Mañú‐Pereira, María del Mar
Published in HemaSphere (01.03.2023)
Published in HemaSphere (01.03.2023)
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First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene
Vives-Corrons, Joan-Lluis, Koralkova, Pavla, Grau, Josep M, Mañú Pereira, Maria Del Mar, Van Wijk, Richard
Published in Frontiers in physiology (01.01.2013)
Published in Frontiers in physiology (01.01.2013)
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