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Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.
Mañú-Pereira Mdel M, Gonzalez-Roca E, van Solinge WW, Llaudet-Planas E, Sevilla J, Montllor L, Mensa-Vilaro A, Ploos van Amstel HK, van Wijk R, Vives-Corrons J. Mañú-Pereira Mdel M, et al. Among authors: montllor l. Am J Hematol. 2015 Dec;90(12):E217-9. doi: 10.1002/ajh.24178. Epub 2015 Nov 17. Am J Hematol. 2015. PMID: 26315463 Free article. No abstract available.
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.