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Sickle cell disease: embedding patient participation into an international conference can transform the role of lived experience.
Pellegrini M, Chakravorty S, Del Mar Manu Pereira M, Gulbis B, Gilmour-Hamilton C, Hayes S, de Montalembert M, Inusa BPD, Colombatti R, Roy NB. Pellegrini M, et al. Among authors: del mar manu pereira m. Orphanet J Rare Dis. 2023 Nov 1;18(1):341. doi: 10.1186/s13023-023-02951-8. Orphanet J Rare Dis. 2023. PMID: 37908000 Free PMC article.
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, Del Mar Mañú-Pereira M, Fermo E, Andolfo I, Clark B, Proven M, Sanchez M, van Wijk R, van der Zwaag B, Layton M, Rees D, Iolascon A. Roy NBA, et al. Among authors: del mar manu pereira m. Hemasphere. 2022 Jun 6;6(6):e739. doi: 10.1097/HS9.0000000000000739. eCollection 2022 Jun. Hemasphere. 2022. PMID: 35686139 Free PMC article. No abstract available.
The variable manifestations of disease in pyruvate kinase deficiency and their management.
Al-Samkari H, Van Beers EJ, Kuo KHM, Barcellini W, Bianchi P, Glenthøj A, Del Mar Mañú Pereira M, Van Wijk R, Glader B, Grace RF. Al-Samkari H, et al. Among authors: del mar manu pereira m. Haematologica. 2020 Sep 1;105(9):2229-2239. doi: 10.3324/haematol.2019.240846. Haematologica. 2020. PMID: 33054048 Free PMC article.
Is Increased Intracellular Calcium in Red Blood Cells a Common Component in the Molecular Mechanism Causing Anemia?
Hertz L, Huisjes R, Llaudet-Planas E, Petkova-Kirova P, Makhro A, Danielczok JG, Egee S, Del Mar Mañú-Pereira M, van Wijk R, Vives Corrons JL, Bogdanova A, Kaestner L. Hertz L, et al. Among authors: del mar manu pereira m. Front Physiol. 2017 Sep 6;8:673. doi: 10.3389/fphys.2017.00673. eCollection 2017. Front Physiol. 2017. PMID: 28932200 Free PMC article.
Safe and Efficient Gene Therapy for Pyruvate Kinase Deficiency.
Garcia-Gomez M, Calabria A, Garcia-Bravo M, Benedicenti F, Kosinski P, López-Manzaneda S, Hill C, Del Mar Mañu-Pereira M, Martín MA, Orman I, Vives-Corrons JL, Kung C, Schambach A, Jin S, Bueren JA, Montini E, Navarro S, Segovia JC. Garcia-Gomez M, et al. Among authors: del mar manu pereira m. Mol Ther. 2016 Aug;24(7):1187-98. doi: 10.1038/mt.2016.87. Epub 2016 May 3. Mol Ther. 2016. PMID: 27138040 Free PMC article.