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Sickle cell disease landscape and challenges in the EU: the ERN-EuroBloodNet perspective.
Mañú Pereira MDM, Colombatti R, Alvarez F, Bartolucci P, Bento C, Brunetta AL, Cela E, Christou S, Collado A, de Montalembert M, Dedeken L, Fenaux P, Galacteros F, Glenthøj A, Gutiérrez Valle V, Kattamis A, Kunz J, Lobitz S, McMahon C, Pellegrini M, Reidel S, Russo G, Santos Freire M, van Beers E, Kountouris P, Gulbis B. Mañú Pereira MDM, et al. Lancet Haematol. 2023 Aug;10(8):e687-e694. doi: 10.1016/S2352-3026(23)00182-5. Epub 2023 Jul 11. Lancet Haematol. 2023. PMID: 37451300 Review.
Red cell pyruvate kinase deficiency in Spain: A study of 15 cases.
Montllor L, Mañú-Pereira MD, Llaudet-Planas E, Gómez Ramírez P, Sevilla Navarro J, Vives-Corrons JL. Montllor L, et al. Med Clin (Barc). 2017 Jan 6;148(1):23-27. doi: 10.1016/j.medcli.2016.10.004. Epub 2016 Nov 19. Med Clin (Barc). 2017. PMID: 27871768 English, Spanish.
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 D, Moss B, Boccia S, Genuardi M, Gajewski M, Capurso G, Fenaux P, Gulbis B, Pellegrini M, Mañú Pereira MDM, Gutiérrez Valle V, Gutiérrez Ibarluzea I, Kent A, Cattaneo I, Jagielska B, Belina I, Tumiene B, Ward A, Papaluca M. Horgan D, et al. Among authors: manu pereira mdm. Biomed Hub. 2020 Jul 17;5(2):1-11. doi: 10.1159/000509272. eCollection 2020 May-Aug. Biomed Hub. 2020. PMID: 33564657 Free PMC article.
Challenges and Opportunities of Precision Medicine in Sickle Cell Disease: Novel European Approach by GenoMed4All Consortium and ERN-EuroBloodNet.
Collado A, Boaro MP, van der Veen S, Idrizovic A, Biemond BJ, Beneitez Pastor D, Ortuño A, Cela E, Ruiz-Llobet A, Bartolucci P, de Montalembert M, Castellani G, Biondi R, Manara R, Sanavia T, Fariselli P, Kountouris P, Kleanthous M, Alvarez F, Zazo S, Colombatti R, van Beers EJ, Mañú-Pereira MDM. Collado A, et al. Among authors: manu pereira mdm. Hemasphere. 2023 Feb 22;7(3):e844. doi: 10.1097/HS9.0000000000000844. eCollection 2023 Mar. Hemasphere. 2023. PMID: 36844183 Free PMC article. No abstract available.
Diagnosis and management of pyruvate kinase deficiency: international expert guidelines.
Al-Samkari H, Shehata N, Lang-Robertson K, Bianchi P, Glenthøj A, Sheth S, Neufeld EJ, Rees DC, Chonat S, Kuo KHM, Rothman JA, Barcellini W, van Beers EJ, Pospíšilová D, Shah AJ, van Wijk R, Glader B, Mañú Pereira MDM, Andres O, Kalfa TA, Eber SW, Gallagher PG, Kwiatkowski JL, Galacteros F, Lander C, Watson A, Elbard R, Peereboom D, Grace RF. Al-Samkari H, et al. Among authors: manu pereira mdm. Lancet Haematol. 2024 Mar;11(3):e228-e239. doi: 10.1016/S2352-3026(23)00377-0. Epub 2024 Feb 5. Lancet Haematol. 2024. PMID: 38330977 Review.
Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases. Bianchi P, et al. Among authors: manu pereira mdm. Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28. Am J Hematol. 2019. PMID: 30358897 Free PMC article.
The International Hemoglobinopathy Research Network (INHERENT): An international initiative to study the role of genetic modifiers in hemoglobinopathies.
Kountouris P, Stephanou C, Archer N, Bonifazi F, Giannuzzi V, Kuo KHM, Maggio A, Makani J, Mañú-Pereira MDM, Michailidou K, Nkya S, Nnodu OE, Trompeter S, Tshilolo L, Wonkam A, Zilfalil BA, Inusa BPD, Kleanthous M; on behalf of the International Hemoglobinopathy Research Network (INHERENT). Kountouris P, et al. Among authors: manu pereira mdm. Am J Hematol. 2021 Nov 1;96(11):E416-E420. doi: 10.1002/ajh.26323. Epub 2021 Aug 30. Am J Hematol. 2021. PMID: 34406671 Free PMC article. No abstract available.
The use of next-generation sequencing in the diagnosis of rare inherited anaemias: A Joint BSH/EHA Good Practice Paper.
Roy NBA, Da Costa L, Russo R, Bianchi P, Mañú-Pereira MDM, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A; British Society for Haematology/ European Hematology Association. Roy NBA, et al. Among authors: manu pereira mdm. Br J Haematol. 2022 Aug;198(3):459-477. doi: 10.1111/bjh.18191. Epub 2022 Jun 6. Br J Haematol. 2022. PMID: 35661144 No abstract available.
Usefulness of NGS for Diagnosis of Dominant Beta-Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases.
Rizzuto V, Koopmann TT, Blanco-Álvarez A, Tazón-Vega B, Idrizovic A, Díaz de Heredia C, Del Orbe R, Pampliega MV, Velasco P, Beneitez D, Santen GWE, Waisfisz Q, Elting M, Smiers FJW, de Pagter AJ, Kerkhoffs JH, Harteveld CL, Mañú-Pereira MDM. Rizzuto V, et al. Among authors: manu pereira mdm. Front Physiol. 2021 Feb 5;12:628236. doi: 10.3389/fphys.2021.628236. eCollection 2021. Front Physiol. 2021. PMID: 33613322 Free PMC article.
17 results