Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Maria del Mar Manu Pereira"'
Autor:
Mariangela Pellegrini, Subarna Chakravorty, Maria del Mar Manu Pereira, Beatrice Gulbis, Catriona Gilmour-Hamilton, Sandy Hayes, Mariane de Montalembert, Baba Psalm Duniya Inusa, Raffaella Colombatti, Noémi BA Roy
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Sickle cell disease (SCD) is an inherited chronic life-threatening disorder with increasing prevalence in Europe. People living with SCD in Europe mainly belong to vulnerable minorities, have a lower level of health education and
Externí odkaz:
https://doaj.org/article/26a1efa6098940dfb7ea70b347f35ede
Autor:
José Martín Solórzano González, Sara Isabel Reidel, Ines Labidi, Claire Diot Lefebvre, Stella Tamana, Victoria Gutierrez Valle, Eduard van Beers, Raffaella Colombatti, Paola Bianchi, Angelo Loris Brunetta, Dore Peereboom, Frédéric Galactéros, Giovanna Russo, Antonis Kattamis, Laurence Dedeken, Joachim Kunz, Elena Cela, Celeste Bento, Ulf Tedgard, Andreas Glenthøj, Soteroula Christou, Marina Kleanthous, Petros Kountouris, Beatrice Gulbis, Maria Del Mar Mañú Pereira
Publikováno v:
HemaSphere, Vol 7, p e13208ab (2023)
Externí odkaz:
https://doaj.org/article/dda4d76b94d94600b11ff5e166a87910
Autor:
Sigrid van der Veen, Myrthe van Dijk, Bart Biemond, Marjon Cnossen, Raffaella Colombatti, Judith Jans, Maria Del Mar Mañú Pereira, Nanda Verhoeven, Richard Van Wijk, Eduard van Beers
Publikováno v:
HemaSphere, Vol 7, p e68469f2 (2023)
Externí odkaz:
https://doaj.org/article/b8a40bb9265f4473b123a3c846eb3a1e
Autor:
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
Publikováno v:
Biomedicine Hub, Vol 5, Iss 2, Pp 143-153 (2020)
Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their str
Externí odkaz:
https://doaj.org/article/80e8dc34f723470d86371be1108b424e
Autor:
Hanny Al-Samkari, Eduard J. van Beers, Kevin H.M. Kuo, Wilma Barcellini, Paola Bianchi, Andreas Glenthøj, María del Mar Mañú Pereira, Richard van Wijk, Bertil Glader, Rachael F. Grace
Publikováno v:
Haematologica, Vol 105, Iss 9 (2020)
Pyruvate kinase deficiency (PKD) is the most common cause of chronic hereditary non-spherocytic hemolytic anemia and results in a broad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests
Externí odkaz:
https://doaj.org/article/5415c1f489f3422aa3d91370036814c5
Autor:
Joan Lluis Vives Corrons, Maria del Mar Mañú Pereira, Juan Pablo Trujillo, Jordi Surrallés, Julián Sevilla
Publikováno v:
Arbor: Ciencia, Pensamiento y Cultura, Vol 194, Iss 789, Pp a463-a463 (2018)
Las anemias raras y los fallos medulares hereditarios son enfermedades hematológicas caracterizadas, respectivamente, por una disminución de la concentración de hemoglobina o por diversos grados de defectos en la producción de células hematopoy
Externí odkaz:
https://doaj.org/article/7c888c77850142e38068309d142c43ef
Autor:
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
Publikováno v:
Thalassemia Reports, Vol 4, Iss 3 (2014)
The Community added value of Centres of Expertise (CoE) and European Reference Networks (ERN) is particularly high for rare diseases (RD) due to the rarity of these conditions, which implies both a small number of patients and scarcity of expertise w
Externí odkaz:
https://doaj.org/article/8dfd18cd6843465cb8188620f60bf6bd
Autor:
Béatrice Gulbis, María del Mar Mañú Pereira, Emilio J. Armaza Armaza, Pilar Nicolás, for the ENERCA working group
Publikováno v:
Thalassemia Reports, Vol 4, Iss 3 (2014)
The creation of a telemedicine, tele-expertise platform opens a new challenge within the European Network for Rare and Congenital Anaemias (ENERCA; www.enerca.org). This is a cornerstone in the field of rare anaemias, in which national expertise is u
Externí odkaz:
https://doaj.org/article/edc16b4accef42d1b9b2f12b256def51
Autor:
Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk
Publikováno v:
Frontiers in Physiology, Vol 4 (2013)
Phosphofructokinase deficiency is a very rare autosomal recessive disorder, which belongs to group of rare inborn errors of metabolism called glycogen storage disease. Here we report on a new mutation in the phosphofructokinase (PFK) gene PFKM identi
Externí odkaz:
https://doaj.org/article/6136e24798fa4ebc80404e348bb63396