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Enzymatic and metabolic characterization of the phosphoglycerate kinase deficiency associated with chronic hemolytic anemia caused by the PGK-Barcelona mutation.
Ramírez-Bajo MJ, Repiso A, la Ossa PP, Bañón-Maneus E, de Atauri P, Climent F, Corrons JL, Cascante M, Carreras J. Ramírez-Bajo MJ, et al. Among authors: repiso a. Blood Cells Mol Dis. 2011 Mar 15;46(3):206-11. doi: 10.1016/j.bcmd.2010.12.009. Epub 2011 Jan 26. Blood Cells Mol Dis. 2011. PMID: 21269848
Characterization of the first described mutation of human red blood cell phosphoglycerate mutase.
de Atauri P, Repiso A, Oliva B, Vives-Corrons JL, Climent F, Carreras J. de Atauri P, et al. Among authors: repiso a. Biochim Biophys Acta. 2005 Jun 10;1740(3):403-10. doi: 10.1016/j.bbadis.2004.11.023. Epub 2004 Dec 10. Biochim Biophys Acta. 2005. PMID: 15949708 Free article.
In a patient with clinical diagnosis of Hereditary Spherocytosis and partial deficiency (50%) of red blood cell phosphoglycerate mutase (PGAM) activity, we have recently reported [A. Repiso, P. Perez de la Ossa, X. Aviles, B. Oliva, J. Junca, R. Oliva, E. ...
In a patient with clinical diagnosis of Hereditary Spherocytosis and partial deficiency (50%) of red blood cell phosphoglycerate muta …
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