Aurora Torres-Feliu

B, Argentina

Last Updated: 09/26/2026

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Found 12 publications

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

Journal: Clinical biochemistry

Published: December 08, 2020

Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia.

Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia.

Journal: Clinical biochemistry

Published: February 11, 2020

Hereditary xerocytosis. Presentation of two pediatric cases

Hereditary xerocytosis. Presentation of two pediatric cases

Journal: Archivos argentinos de pediatria

Published: March 15, 2019

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study.

Journal: Archivos argentinos de pediatria

Published: September 05, 2018

Corrigendum to 'Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients' [Clin. Biochem. 49 (2016) 808-810].

Corrigendum to 'Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients' [Clin. Biochem. 49 (2016) 808-810].

Journal: Clinical biochemistry

Published: June 17, 2018

Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase

Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase

Journal: Medicina

Published: December 29, 2015

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.

Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.

Journal: Clinical biochemistry

Published: September 14, 2015

Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series

Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series

Journal: Archivos argentinos de pediatria

Published: March 11, 2015

A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.

A new β(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of β-thalassemia.

Journal: Hemoglobin

Published: October 01, 2014

α-globin gene quadruplication and heterozygous β-thalassemia: a not so rare cause of thalassemia intermedia.

α-globin gene quadruplication and heterozygous β-thalassemia: a not so rare cause of thalassemia intermedia.

Journal: Acta haematologica

Published: March 27, 2013

Severe hemolytic anemia due to hemoglobin Southampton: case report

Severe hemolytic anemia due to hemoglobin Southampton: case report

Journal: Archivos argentinos de pediatria

Published: April 10, 2012

Von Willebrand disease in children: diagnosis and management of a pediatric cohort in one single center in Argentina.

Von Willebrand disease in children: diagnosis and management of a pediatric cohort in one single center in Argentina.

Journal: Seminars in thrombosis and hemostasis

Published: November 22, 2011

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Last Updated: 09/26/2026