Detalhe da pesquisa
1.
Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena.
Pediatr Blood Cancer
; 71(4): e30867, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38217084
2.
[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
3.
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
4.
Hemoglobin Denver, a cause of desaturated pulse oximetry. A pediatric case report. / Hemoglobina Denver, una causa de desaturación en oximetría de pulso. Reporte de caso en un paciente pediátrico.
Arch Argent Pediatr
; 121(5): e202202801, 2023 10 01.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-36857142
5.
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
6.
Metformin, estrogen replacement therapy and gonadotropin inhibition fail to improve insulin sensitivity in a girl with aromatase deficiency.
Horm Res
; 72(6): 370-6, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-19844126
7.
[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
8.
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
9.
Hemoglobina Denver, una causa de desaturación en oximetría de pulso. Reporte de caso en un paciente pediátrico / Hemoglobin Denver, a cause of desaturated pulse oximetry. A pediatric case report
Arch. argent. pediatr
; 121(5): e202202801, oct. 2023. tab, ilus
Artigo
em Inglês, Espanhol
| LILACS, BINACIS | ID: biblio-1509956
10.
Identification and developmental changes of aromatase and estrogen receptor expression in prepubertal and pubertal human adrenal tissues.
J Clin Endocrinol Metab
; 92(6): 2215-22, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17405842
11.
[Exon 5 alternative splicing of the cytochrome P450 aromatase could be a regulatory mechanism for estrogen production in humans]. / El splicing alternativo del exón 5 de la citocromo p450 aromatasa podría ser un mecanismo de regulación de la producción de estrógenos en humanos.
Medicina (B Aires)
; 67(4): 369-73, 2007.
Artigo
em Espanhol
| MEDLINE | ID: mdl-17891933
12.
Kinetic analysis of the humoral immune response against 3 Toxoplasma gondii-recombinant proteins in infants with suspected congenital toxoplasmosis.
Diagn Microbiol Infect Dis
; 56(2): 161-5, 2006 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16713163
13.
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
14.
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
15.
[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
16.
Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterocygote for two new point mutations of the CYP19 gene.
J Clin Endocrinol Metab
; 88(11): 5127-31, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14602738
17.
[Seroprevalence of Chagas disease in 17 rural communities of "Monte Impenetrable", Chaco Province]. / Seroprevalencia de la enfermedad de Chagas en 17 parajes del "Monte Impenetrable" de la Provincia del Chaco.
Medicina (B Aires)
; 63(2): 125-9, 2003.
Artigo
em Espanhol
| MEDLINE | ID: mdl-12793080
18.
Palatability and stability of shortbread made with low saturated fat content.
J Food Sci
; 79(4): C469-75, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24592978
19.
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
20.
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