Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience

Authors: 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

Source: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)

Subject Terms: Sickle cell disease, Patient education, Patient therapeutic education, Public patients involvement in Research, Patients workshop, International congress, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/26a1efa6098940dfb7ea70b347f35ede

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

Authors: 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

Source: HemaSphere, Vol 7, p e68469f2 (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000976772.68469.f2; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/b8a40bb9265f4473b123a3c846eb3a1e

P1427: RARE ANAEMIA DISORDERS EUROPEAN EPIDEMIOLOGICAL PLATFORM (RADEEP): DISTRIBUTION OF PATIENTS AFFECTED BY RADS IN EUROPE

Authors: 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

Source: HemaSphere, Vol 7, p e13208ab (2023)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000972592.13208.ab; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/dda4d76b94d94600b11ff5e166a87910

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?

Authors: 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

Source: Biomedicine Hub, Vol 5, Iss 2, Pp 143-153 (2020)

Subject Terms: rare disease, regulatory, member states, orphan regulation, european commission, patients, personalised healthcare, incentives, challenges, access, biosimilars, unmet need, reimbursement, diagnostics, biomarkers, inequality, treatment, data, ultra-rare disease, empowerment, patient, citizens, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.karger.com/Article/FullText/509272; https://doaj.org/toc/2296-6870

Access URL: https://doaj.org/article/80e8dc34f723470d86371be1108b424e

The variable manifestations of disease in pyruvate kinase deficiency and their management

Authors: 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

Source: Haematologica, Vol 105, Iss 9 (2020)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/9854; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/5415c1f489f3422aa3d91370036814c5

Anemias raras y fallos medulares hereditarios

Authors: Joan Lluis Vives Corrons, Maria del Mar Mañú Pereira, Juan Pablo Trujillo, Jordi Surrallés, Julián Sevilla

Source: Arbor: Ciencia, Pensamiento y Cultura, Vol 194, Iss 789, Pp a463-a463 (2018)

Subject Terms: anemias raras, anemia ferropénica, talasemia, eritrocitos, hemoglobina, anemia de fanconi, disqueratosis congénita, anemia de diamond-blackfan, síndrome de shwachman-diamond, General Works

File Description: electronic resource

Relation: http://arbor.revistas.csic.es/index.php/arbor/article/view/2276; https://doaj.org/toc/0210-1963; https://doaj.org/toc/1988-303X

Access URL: https://doaj.org/article/7c888c77850142e38068309d142c43ef

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

Authors: 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

Source: Thalassemia Reports, Vol 4, Iss 3 (2014)

Subject Terms: rare anaemias, ENERCA, Europe, public health policies, haemoglobinopathies., Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://www.pagepressjournals.org/index.php/thal/article/view/4878; https://doaj.org/toc/2039-4357; https://doaj.org/toc/2039-4365

Access URL: https://doaj.org/article/8dfd18cd6843465cb8188620f60bf6bd

e-ENERCA: telemedicine platform for rare anaemias

Authors: Béatrice Gulbis, María del Mar Mañú Pereira, Emilio J. Armaza Armaza, Pilar Nicolás, for the ENERCA working group

Source: Thalassemia Reports, Vol 4, Iss 3 (2014)

Subject Terms: rare anaemias, telemedicine, ENERCA, patients, tele-expertise., Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: http://www.pagepressjournals.org/index.php/thal/article/view/4879; https://doaj.org/toc/2039-4357; https://doaj.org/toc/2039-4365

Access URL: https://doaj.org/article/edc16b4accef42d1b9b2f12b256def51

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

Authors: Joan-Lluis eVives Corrons, Pavla eKoralkova, Josep Maria Grau, Maria del Mar Mañú Pereira, Richard eVan Wijk

Source: Frontiers in Physiology, Vol 4 (2013)

Subject Terms: Glycogen Storage Disease, Enzyme Catalysis, Phosphofructokinase deficiency, PFKM Gene, Missense Mutation, Physiology, QP1-981

File Description: electronic resource

Relation: http://journal.frontiersin.org/Journal/10.3389/fphys.2013.00393/full; https://doaj.org/toc/1664-042X

Access URL: https://doaj.org/article/6136e24798fa4ebc80404e348bb63396