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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: fernandez d. 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.
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series].
Eandi Eberle S, Pepe C, Aguirre F, Milanesio B, Fernández D, Mansini A, Chávez A, Sciuccati G, Díaz L, Candás A, Avalos Gómez V, Bonduel M, Feliú Torres A. Eandi Eberle S, et al. Among authors: fernandez d. Arch Argent Pediatr. 2015 Oct;113(5):e294-8. doi: 10.5546/aap.2015.e294. Arch Argent Pediatr. 2015. PMID: 26294166 Free article. Spanish.
Corrigendum to 'Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients' [Clin. Biochem. 49 (2016) 808-810].
Chaves A, Eandi Eberle S, Defelipe L, Pepe C, Milanesio B, Aguirre F, Fernandez D, Turjanski A, Feliú-Torres A. Chaves A, et al. Among authors: fernandez d. Clin Biochem. 2018 Aug;58:131. doi: 10.1016/j.clinbiochem.2018.06.005. Epub 2018 Jun 21. Clin Biochem. 2018. PMID: 29908141 No abstract available.
[Hereditary xerocytosis. Presentation of two pediatric cases].
Eandi Eberle S, Pepe C, Aguirre F, Milanesio B, Fernández D, Ávalos Gómez V, Kinen A, Feliu Torres A. Eandi Eberle S, et al. Among authors: fernandez d. Arch Argent Pediatr. 2019 Dec 1;117(6):e684-e687. doi: 10.5546/aap.2019.e684. Arch Argent Pediatr. 2019. PMID: 31758911 Free article. Spanish.
Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia.
Chaves A, Eandi Eberle S, Avalos Gomez V, Milanesio B, Fernandez D, Albero A, Aguirre F, Aizpurua L, Dieuzeide MP, Pepe C, Feliu-Torres A. Chaves A, et al. Among authors: fernandez d. Clin Biochem. 2020 Jul;81:63-64. doi: 10.1016/j.clinbiochem.2020.04.007. Epub 2020 May 6. Clin Biochem. 2020. PMID: 32387441 No abstract available.
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: fernandez d. Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23. Clin Biochem. 2021. PMID: 33631127
1,260 results