Anemias raras y fallos medulares hereditarios

by Joan Lluis Vives Corrons, Maria del Mar Mañú Pereira, Juan Pablo Trujillo, Jordi Surrallés, Julián Sevilla
Published 2018-09-01

e-ENERCA: telemedicine platform for rare anaemias

by Béatrice Gulbis, María del Mar Mañú Pereira, Emilio J. Armaza Armaza, Pilar Nicolás, for the ENERCA working group
Published 2014-12-01

First Description of Phosphofructokinase Deficiency In Spain: Identification Of A Novel Homozygous Missense Mutation In The PFKM Gene

by Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk
Published 2013-12-01

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

by Valeria Rizzuto, Arianna Mencattini, Begoña Álvarez-González, Davide Di Giuseppe, Eugenio Martinelli, David Beneitez-Pastor, Maria del Mar Mañú-Pereira, Maria José Lopez-Martinez, Josep Samitier
Published 2021-06-01

A Previously Unrecognized Ca2+-inhibited Nonselective Cation Channel in Red Blood Cells

by Polina Petkova-Kirova, Laura Hertz, Asya Makhro, Jens Danielczok, Rick Huisjes, Esther Llaudet-Planas, Maria del Mar Mañú-Pereira, Joan-Luis Vives Corrons, Richard van Wijk, Anna Bogdanova, Lars Kaestner
Published 2018-10-01

Red Blood Cell Membrane Conductance in Hereditary Haemolytic Anaemias

by Polina Petkova-Kirova, Laura Hertz, Laura Hertz, Jens Danielczok, Rick Huisjes, Asya Makhro, Anna Bogdanova, Maria del Mar Mañú-Pereira, Joan-Lluis Vives Corrons, Richard van Wijk, Lars Kaestner, Lars Kaestner
Published 2019-04-01

Red cell properties after different modes of blood transportation

by Asya Makhro, Rick Huisjes, Liesbeth P. Verhagen, Maria del Mar Mañú-Pereira, Esther Llaudet-Planas, Polina Petkova-Kirova, Jue Wang, Hermann Eichler, Anna Bogdanova, Richard Van Wijk, Joan-LLuis Vives Corrons, Lars Kaestner, Lars Kaestner
Published 2016-07-01

Recommendations for centres of expertise in rare anaemias. The ENERCA White Book

by Joan-Lluis Vives Corrons, María del Mar Mañú Pereira, Carlos Romeo-Casabona, Pilar Nicolás, Béatrice Gulbis, Androulla Eleftheriou, Michael Angastiniotis, Patricia Aguilar Martínez, Paola Bianchi, Richard Van Wijk, Hermann Heimpel, Barbara De la Salle, Andrea Mosca
Published 2014-12-01

Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?

by Laura Hertz, Rick Huisjes, Esther Llaudet-Planas, Polina Petkova-Kirova, Asya Makhro, Jens G. Danielczok, Stephane Egee, Stephane Egee, Stephane Egee, Maria del Mar Mañú-Pereira, Richard van Wijk, Joan-Lluis Vives Corrons, Anna Bogdanova, Lars Kaestner, Lars Kaestner
Published 2017-09-01

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?

by Denis Horgan, Barbara Moss, Stefania Boccia, Maurizio Genuardi, Maciej Gajewski, Gabriele Capurso, Pierre Fenaux, Beatrice Gulbis, Mariangela Pellegrini, Maria del Mar Mañú Pereira, Victoria Gutiérrez Valle, Iñaki  Gutiérrez Ibarluzea, Alastair Kent, Ivana Cattaneo, Beata Jagielska, Ivica Belina, Birute Tumiene, Adrian Ward, Marisa Papaluca
Published 2020-07-01

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

by Valeria Rizzuto, Valeria Rizzuto, Valeria Rizzuto, Tamara T. Koopmann, Adoración Blanco-Álvarez, Barbara Tazón-Vega, Amira Idrizovic, Cristina Díaz de Heredia, Rafael Del Orbe, Miriam Vara Pampliega, Pablo Velasco, David Beneitez, Gijs W. E. Santen, Quinten Waisfisz, Mariet Elting, Frans J. W. Smiers, Anne J. de Pagter, Jean-Louis H. Kerkhoffs, Cornelis L. Harteveld, Maria del Mar Mañú-Pereira
Published 2021-02-01