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Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Clin Biochem. 2021 May;91:26-30. doi: 10.1016/j.clinbiochem.2021.02.003. Epub 2021 Feb 23.
Clin Biochem. 2021.
PMID: 33631127
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: avalos gomez v.
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.
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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: avalos gomez v.
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.
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[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: avalos gomez v.
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.
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[Severe hemolytic anemia due to hemoglobin Southampton: case report].
Avalos Gómez V, Eandi Eberle S, Pepe C, Sciuccati G, García Rosolen N, Cervio C, Díaz L, Candás A, Bonduel M, Piazza G, Chaves D, Feliú Torres A.
Avalos Gómez V, et al.
Arch Argent Pediatr. 2012 Oct;110(5):e91-4. doi: 10.5546/aap.2012.e91.
Arch Argent Pediatr. 2012.
PMID: 23070193
Free article.
Spanish.
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[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: avalos gomez v.
Arch Argent Pediatr. 2015 Oct;113(5):e294-8. doi: 10.5546/aap.2015.e294.
Arch Argent Pediatr. 2015.
PMID: 26294166
Free article.
Spanish.
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[Glucose 6 phosphate dehydrogenase deficiency: a case series].
Eandi Eberle S, García Rosolen N, Urtasun C, Sciuccati G, Díaz L, Savietto V, Candás A, Avalos Gómez V, Cervio C, Bonduel M, Feliú Torres A.
Eandi Eberle S, et al. Among authors: avalos gomez v.
Arch Argent Pediatr. 2011 Aug;109(4):354-6. doi: 10.5546/aap.2011.354.
Arch Argent Pediatr. 2011.
PMID: 21829878
Spanish.
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