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Material Type: Artigo
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Mutations, clinical findings and survival estimates in South American patients with x-linked adrenoleukodystrophyFernanda dos Santos Pereira Ursula Matte; Clarissa Troller Habekost; Raphael Machado de Castilhos; Antonette Souto El Husny; Charles Marques Lourenço; Angela M Vianna-Morgante; Liane Giuliani; Marcial Francis Galera; Rachel Honjo; Chong Ae Kim; Juan Politei; Carmen Regla Vargas; Laura Bannach JardimPlos One San Francisco v. 7, n. 3, p. e34195, Mar. 2012San Francisco 2012Localização: FMRP - Fac. Medicina de Ribeirão Preto (pcd 2291162 Acervo Digital )(Acessar) |
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2 |
Material Type: Artigo
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Disruption of mitochondrial functions and oxidative stress contribute to neurologic dysfunction in organic aciduriasWajner, Moacir ; Vargas, Carmen Regla ; Amaral, Alexandre UmpierrezArchives of biochemistry and biophysics, 2020-12, Vol.696, p.108646-108646, Article 108646 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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Oxidative stress in urea cycle disorders: Findings from clinical and basic researchParmeggiani, Belisa ; Vargas, Carmen ReglaClinica chimica acta, 2018-02, Vol.477, p.121-126 [Periódico revisado por pares]Netherlands: Elsevier B.VTexto completo disponível |
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4 |
Material Type: Artigo
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Evaluation of biochemical profile and oxidative damage to lipids and proteins in patients with lysosomal acid lipase deficiencyGuerreiro, Gilian ; Deon, Marion ; Vargas, Carmen ReglaBiochemistry and cell biology, 2023-08, Vol.101 (4), p.294-302 [Periódico revisado por pares]Canada: Canadian Science Publishing NRC Research PressTexto completo disponível |
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5 |
Material Type: Artigo
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Information and Diagnosis Networks - tools to improve diagnosis and treatment for patients with rare genetic diseasesVieira, Taiane Alves ; Trapp, Franciele Barbosa ; Souza, Carolina Fischinger Moura de ; Faccini, Lavínia Schuler ; Jardim, Laura Bannach ; Schwartz, Ida Vanessa Doederlein ; Riegel, Mariluce ; Vargas, Carmen Regla ; Burin, Maira Graeff ; Leistner-Segal, Sandra ; Ashton-Prolla, Patrícia ; Giugliani, RobertoGenetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.155-164 [Periódico revisado por pares]Brazil: Sociedade Brasileira de GeneticaTexto completo disponível |
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6 |
Material Type: Artigo
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Evidence that Oxidative Disbalance and Mitochondrial Dysfunction are Involved in the Pathophysiology of Fatty Acid Oxidation DisordersRibas, Graziela Schmitt ; Vargas, Carmen ReglaCellular and molecular neurobiology, 2022-04, Vol.42 (3), p.521-532 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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7 |
Material Type: Artigo
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Pristanic acid promotes oxidative stress in brain cortex of young rats: A possible pathophysiological mechanism for brain damage in peroxisomal disordersLeipnitz, Guilhian ; Amaral, Alexandre Umpierrez ; Fernandes, Carolina Gonçalves ; Seminotti, Bianca ; Zanatta, Ângela ; Knebel, Lisiane Aurélio ; Vargas, Carmen Regla ; Wajner, MoacirBrain research, 2011-03, Vol.1382, p.259-265 [Periódico revisado por pares]Amsterdam: Elsevier B.VTexto completo disponível |
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8 |
Material Type: Artigo
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Hyperammonemia in Inherited Metabolic DiseasesRibas, Graziela Schmitt ; Lopes, Franciele Fátima ; Deon, Marion ; Vargas, Carmen ReglaCellular and molecular neurobiology, 2022-11, Vol.42 (8), p.2593-2610 [Periódico revisado por pares]New York: Springer USTexto completo disponível |
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9 |
Material Type: Artigo
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Evaluation of oxidative damage to biomolecules and inflammation in patients with urea cycle disordersLopes, Franciele Fátima ; Lamberty Faverzani, Jéssica ; Hammerschmidt, Tatiane ; Aguilar Delgado, Camila ; Ferreira de Oliveira, Julia ; Wajner, Moacir ; Regla Vargas, CarmenArchives of biochemistry and biophysics, 2023-03, Vol.736, p.109526-109526, Article 109526 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |
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10 |
Material Type: Artigo
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Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AAHammerschmidt, Tatiane Grazieli ; Encarnação, Marisa ; Lamberty Faverzani, Jéssica ; de Fátima Lopes, Franciele ; Poswar de Oliveira, Fabiano ; Fischinger Moura de Sousa, Carolina ; Ribeiro, Isaura ; Alves, Sandra ; Giugliani, Roberto ; Regla Vargas, CarmenArchives of biochemistry and biophysics, 2023-02, Vol.735, p.109510-109510, Article 109510 [Periódico revisado por pares]United States: Elsevier IncTexto completo disponível |