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Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.
Eandi Eberle S, Pepe C, Chaves A, Aguirre F, Milanesio B, Fernández D, Ávalos Gómez V, Sciuccati G, Díaz LA, Candas A, Cervio C, Bonduel M, Feliu Torres A. Eandi Eberle S, et al. Among authors: chaves a. Arch Argent Pediatr. 2019 Aug 1;117(4):263-270. doi: 10.5546/aap.2019.eng.267. Arch Argent Pediatr. 2019. PMID: 31339274 Free article. English, Spanish.
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Milanesio B, Pepe C, Defelipe LA, Eandi Eberle S, Avalos Gomez V, Chaves A, Albero A, Aguirre F, Fernandez D, Aizpurua L, Paula Dieuzeide M, Turjanski A, Bianchi P, Fermo E, Feliu-Torres A. Milanesio B, et al. Among authors: chaves a. Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23. Clin Biochem. 2021. PMID: 33631127
A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.
Pepe C, Eberle SE, Chaves A, Milanesio B, Aguirre FM, Gómez VA, Diaz L, Mansini AP, Fernandez DA, Sciuccati G, Candas A, Cervio C, Bonduel M, Feliú-Torres A. Pepe C, et al. Among authors: chaves a. Hemoglobin. 2014;38(6):444-6. doi: 10.3109/03630269.2014.964361. Epub 2014 Sep 30. Hemoglobin. 2014. PMID: 25268796
756 results