Zobrazeno 1 - 10 of 50 pro vyhledávání: '"Carolina Pepe"'
1
Metahemoglobinemia recesiva congénita. A propósito de un caso
Autor: SILVIA EANDI EBERLE, ALEJANDRO CHAVES, CAROLINA PEPE, MARIA PAULA DIUZEIDE, DIEGO FERNANDEZ, FLORENICA NOVELLO, VANESA AVALOS GOMEZ
Publikováno v: Revista Hematología. 26:97-100
La metahemoglobinemia es una condición caracterizada por la presencia de altas concentraciones de metahemoglobina en sangre, la cual es incapaz de liberar oxígeno a los tejidos. Es una entidad poco frecuente, con baja sospecha diagnóstica, y puede
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5771399574e53200cec337c08a624184
https://doi.org/10.48057/hematologa.v26i2.427
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2
Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients
Autor: Fernando Aguirre, Silvia Eandi Eberle, Agustina Albero, Carolina Pepe, Lucas A. Defelipe, Luciana Aizpurua, Berenice Milanesio, Vanesa Avalos Gómez, Adrian Turjanski, Maria Paula Dieuzeide, Paola Bianchi, Aurora Feliu-Torres, Diego Fernandez, Elisa Fermo, Alejandro Chaves
Publikováno v: Clinical biochemistry. 91
Background Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc42232338a88d7076b5a19d3c421381
https://pubmed.ncbi.nlm.nih.gov/33631127
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4
Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos
Autor: Diego Fernandez, Analía Kinen, Silvia Eandi Eberle, Fernando Aguirre, Berenice Milanesio, Aurora Feliú Torres, Vanesa Avalos Gómez, Carolina Pepe
Publikováno v: Archivos Argentinos de Pediatria. 117
Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a3b816395b259002cbec9289754efed2
https://doi.org/10.5546/aap.2019.e684
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6
[Hereditary xerocytosis. Presentation of two pediatric cases]
Autor: Silvia, Eandi Eberle, Carolina, Pepe, Fernando, Aguirre, Berenice, Milanesio, Diego, Fernández, Vanesa, Ávalos Gómez, Analía, Kinen, Aurora, Feliu Torres
Publikováno v: Archivos argentinos de pediatria. 117(6)
Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::789a7a71f6e8d0480482861e17eabf21
https://pubmed.ncbi.nlm.nih.gov/31758911
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7
Phenotypic and genotypic characterization of glucose-6-phosphate dehydrogenase deficiency in Argentina. Retrospective and descriptive study
Autor: Fernando Aguirre, Andrea Candás, Vanesa Avalos Gómez, Alejandro Chaves, Aurora Feliú Torres, Mariana Bonduel, Berenice Milanesio, Carolina Pepe, Carolina Cervio, Silvia Eandi Eberle, Gabriela Sciuccati, Diego Fernandez, Lilián Díaz
Publikováno v: Archivos argentinos de pediatría, Volume: 117, Issue: 4, Pages: 267-270, Published: 01 AUG 2019
La deficiencia de glucosa-6-fosfato deshidrogenasa es la enzimopatía eritrocitaria causada por mutaciones en el gen G6PD, cuya herencia está ligada al cromosoma X. Se analizan las características clínicas y de laboratorio de 24 individuos con def
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d3cc930f6bb2c7f79ef317055f148c7
https://pubmed.ncbi.nlm.nih.gov/31339274
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9
Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
Autor: Fernando Aguirre, Berenice Milanesio, Aurora Feliu-Torres, Diego Fernandez, Lucas A. Defelipe, Silvia Eandi Eberle, Carolina Pepe, Alejandro Chaves, Adrian Turjanski
Publikováno v: Clinical Biochemistry. 49:808-810
Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to prote
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a049343780ccf047b7e994f948106533
https://doi.org/10.1016/j.clinbiochem.2016.01.018
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10
Palatability and Stability of Shortbread Made with Low Saturated Fat Content
Autor: Roberto Martini, Caterina Falconi, Andrea Mangione, Carolina Pepe, Ombretta Marconi, Giuseppe Perretti
Publikováno v: Journal of Food Science. 79:C469-C475
High consumption of saturated fatty acids (SFA) is associated with increased risk of cardiovascular disease and the European Food Safety Agency has called for lower SFA intake. This study assessed the formulation of low SFA shortbreads by replacing 6
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b1bcde29c0d38b68fc3d533f4d0808dc
https://doi.org/10.1111/1750-3841.12383
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