Detalhe da pesquisa
1.
[Hemoglobin Woodville associated with double point mutation in the gene of glucose-6-phosphate dehydrogenase]. / Hemoglobina Woodville asociada a una doble mutación puntual en el gen de la glucosa-6-fosfato deshidrogenasa.
Medicina (B Aires)
; 75(6): 404-6, 2015.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26707665
2.
A new ß(0) frameshift mutation, HBB: c.44delT (p.Leu14ArgfsX5), identified in an Argentinean family associated with secondary genetic modifiers of ß-thalassemia.
Hemoglobin
; 38(6): 444-6, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25268796
3.
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.
Clin Biochem
; 91: 26-30, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631127
4.
[Hereditary xerocytosis. Presentation of two pediatric cases]. / Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos.
Arch Argent Pediatr
; 117(6): e684-e687, 2019 12 01.
Artigo
em Espanhol
| MEDLINE | ID: mdl-31758911
5.
Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study. / Caracterización fenotípica y genotipica de la deficiencia de glucosa-6-fosfato deshidrogenasa en Argentina. Estudio retrospectivo y descriptivo.
Arch Argent Pediatr
; 117(4): 263-270, 2019 08 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-31339274
6.
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients.
Clin Biochem
; 49(10-11): 808-10, 2016 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26827633
7.
Glucose 6 phosphate dehydrogenase deficiency: Description of a novel and de novo variant associated with chronic nonspherocytic hemolytic anemia.
Clin Biochem
; 81: 63-64, 2020 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-32387441
8.
[Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series]. / Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos.
Arch Argent Pediatr
; 113(5): e294-8, 2015 Oct.
Artigo
em Espanhol
| MEDLINE | ID: mdl-26294166
9.
Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos / Hereditary xerocytosis. Presentation of two pediatric cases
Arch. argent. pediatr
; 117(6): 684-687, dic. 2019. tab
Artigo
em Espanhol
| LILACS, BINACIS | ID: biblio-1051382
10.
Caracterización fenotípica y genotipica de la deficiencia de glucosa-6-fosfato deshidrogenasa en Argentina: Estudio retrospectivo y descriptivo / Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina: Retrospective and descriptive study
Arch. argent. pediatr
; 117(4): 267-270, ago. 2019. tab
Artigo
em Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1054935
11.
Corrigendum to 'Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients' [Clin. Biochem. 49 (2016) 808-810].
Clin Biochem
; 58: 131, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29908141
12.
Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos / Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series
Arch. argent. pediatr
; 113(5): e294-e298, oct. 2015. ilus, tab
Artigo
em Espanhol
| LILACS, BINACIS | ID: lil-757075
13.
Beta talasemia intermedia: características clínicas y estudio molecular. Serie de casos clínicos / Beta thalassemia intermedia: clinical characteristics and molecular analysis. Case series
Arch. argent. pediatr
; 113(5): e294-e298, oct. 2015. ilus, tab
Artigo
em Espanhol
| BINACIS | ID: bin-133970