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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.
Garate Z, Quintana-Bustamante O, Crane AM, Olivier E, Poirot L, Galetto R, Kosinski P, Hill C, Kung C, Agirre X, Orman I, Cerrato L, Alberquilla O, Rodriguez-Fornes F, Fusaki N, Garcia-Sanchez F, Maia TM, Ribeiro ML, Sevilla J, Prosper F, Jin S, Mountford J, Guenechea G, Gouble A, Bueren JA, Davis BR, Segovia JC. Garate Z, et al. Among authors: maia tm. Stem Cell Reports. 2015 Dec 8;5(6):1053-1066. doi: 10.1016/j.stemcr.2015.10.002. Epub 2015 Nov 5. Stem Cell Reports. 2015. PMID: 26549847 Free PMC article.
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: maia tm. 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.
Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).
Bento C, Almeida H, Maia TM, Relvas L, Oliveira AC, Rossi C, Girodon F, Fernandez-Lago C, Aguado-Diaz A, Fraga C, Costa RM, Araújo AL, Silva J, Vitória H, Miguel N, Silveira MP, Martin-Nuñez G, Ribeiro ML. Bento C, et al. Among authors: maia tm. Eur J Haematol. 2013 Oct;91(4):361-8. doi: 10.1111/ejh.12170. Epub 2013 Aug 20. Eur J Haematol. 2013. PMID: 23859443
Genetic basis of congenital erythrocytosis: mutation update and online databases.
Bento C, Percy MJ, Gardie B, Maia TM, van Wijk R, Perrotta S, Della Ragione F, Almeida H, Rossi C, Girodon F, Aström M, Neumann D, Schnittger S, Landin B, Minkov M, Randi ML, Richard S, Casadevall N, Vainchenker W, Rives S, Hermouet S, Ribeiro ML, McMullin MF, Cario H; ECE-Consortium; Chauveau A, Gimenez-Roqueplo AP, Bressac-de-Paillerets B, Altindirek D, Lorenzo F, Lambert F, Dan H, Gad-Lapiteau S, Catarina Oliveira A, Rossi C, Fraga C, Taradin G, Martin-Nuñez G, Vitória H, Diaz Aguado H, Palmblad J, Vidán J, Relvas L, Ribeiro ML, Luigi Larocca M, Luigia Randi M, Pedro Silveira M, Percy M, Gross M, Marques da Costa R, Beshara S, Ben-Ami T, Ugo V; ECE-Consortium. Bento C, et al. Among authors: maia tm. Hum Mutat. 2014 Jan;35(1):15-26. doi: 10.1002/humu.22448. Epub 2013 Oct 22. Hum Mutat. 2014. PMID: 24115288
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