First description of phosphofructokinase deficiency in spain: identification of a novel homozygous missense mutation in the PFKM gene

por Vives-Corrons, Joan-Lluis, Koralkova, Pavla, Grau, Josep M., Mañú Pereira, Maria del Mar, Van Wijk, Richard
Publicado 2013

Haemoglobinopathies in Europe: health & migration policy perspectives

por Aguilar Martinez, Patricia, Angastiniotis, Michael, Eleftheriou, Androulla, Gulbis, Beatrice, Mañú Pereira, Maria Del Mar, Petrova-Benedict, Roumyana, Corrons, Joan-Lluis Vives
Publicado 2014

Combining microfluidics with machine learning algorithms for RBC classification in rare hereditary hemolytic anemia

por 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
Publicado 2021

Heterogeneity of G6PD deficiency prevalence in Mozambique: a school-based cross-sectional survey in three different regions

por 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
Publicado 2017

Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias

por 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
Publicado 2019

PB2518: OPTIMIZING THE DETECTION OF 2,3- DIPHOSPHOGLYCERATE IN DRIED BLOOD SPOTS OF PATIENTS WITH SICKLE CELL DISEASE: UNTARGETED METABOLOMICS WITHIN THE GENOMED4ALL PROJECT

por van der Veen, Sigrid, van Dijk, Myrthe, Biemond, Bart, Cnossen, Marjon, Colombatti, Raffaella, Jans, Judith, Mañú Pereira, Maria Del Mar, Verhoeven, Nanda, Van Wijk, Richard, van Beers, Eduard
Publicado 2023

A Previously Unrecognized Ca(2+)-inhibited Nonselective Cation Channel in Red Blood Cells

por Petkova-Kirova, Polina, Hertz, Laura, Makhro, Asya, Danielczok, Jens, Huisjes, Rick, Llaudet-Planas, Esther, Mañú-Pereira, Maria del Mar, Vives Corrons, Joan-Luis, van Wijk, Richard, Bogdanova, Anna, Kaestner, Lars
Publicado 2018

Red Cell Properties after Different Modes of Blood Transportation

por 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
Publicado 2016

Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases

por 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
Publicado 2021

Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet

por Collado, Anna, Boaro, Maria Paola, van der Veen, Sigrid, Idrizovic, Amira, Biemond, Bart J., Beneitez Pastor, David, Ortuño, Ana, Cela, Elena, Ruiz-Llobet, Anna, Bartolucci, Pablo, de Montalembert, Marianne, Castellani, Gastone, Biondi, Riccardo, Manara, Renzo, Sanavia, Tiziana, Fariselli, Piero, Kountouris, Petros, Kleanthous, Marina, Alvarez, Federico, Zazo, Santiago, Colombatti, Raffaella, van Beers, Eduard J., Mañú-Pereira, María del Mar
Publicado 2023

ERN-EuroBloodNet European Registry of Patients Affected by Red Blood Cell Disorders and COVID-19

por Velasco, Pablo, Longo, Filomena, Piolatto, Andrea, Bardón-Cancho, Eduardo J., Ponce-Salas, Beatriz, Flevari, Pagona, Voskaridou, Ersi, Biemond, Bart J., Nur, Erfan, Delaporta, Polyxeni, Besse-Hammer, Tatiana, Ruiz-Llobet, Anna, Raso, Simona, Spasiano, Anna, Guerzoni, Maria Elena, Beneitez-Pastor, David, Dedeken, Laurence, Pepe, Alessia, Rosso, Rosamaria, Kunz, Joachim B., de Montalembert, Mariane, Campisi, Saveria, Glenthøj, Andreas, Gonzalez Urdiales, Paula, Benghiat, Fleur Samantha, Azerad, Marie-Agnès, Saunders, Christopher J., Ferreira Faria, Teresa, Casini, Tommaso, Bagnato, Sabrina, Van de Velde, Ann, Labarque, Veerle, Bertoni, Elisa, Van Damme, An, Diamantidis, Michael D., Russo, Roberta, Stiakaki, Eftichia, Quota, Alessandra, Christou, Soteroula, Teles, Maria Jose, Lafiatis, Ioannis, Kerkhoffs, Jean-Louis, Argüello Marina, María, Lorite, Mikael, Rodriguez, Alexis, Iolascon, Achille, Taher, Ali T., Colombatti, Raffaella, Roy, Noemi, Mañú Pereira, Maria Del Mar
Publicado 2021