DNA damage in homocystinuria: 8-oxo‑,8‑dihydro‑2’-deoxyguanosine levels in cystathionine-β-synthase deficient patients and the in vitro protective effect of N-acetyl‑L‑cysteine

Autor: Camila Simioni Vanzin, Caroline Paula Mescka, Bruna Donida, Desirèe Padilha Marchetti, Carlos Eduardo Jacques, Tatiane Hauschild, Jéssica Lamberty Faverzani, Marion Deon, Dinara Moura, Jenifer Saffi, Daniella de Moura Coelho, Moacir Wajner, Angela T.S. Wyse, Carmen Regla Vargas

Publikováno v: Clinical and Biomedical Research, Vol 38, Iss 1 (2018)

Introduction: Homocysteine (Hcy) tissue accumulation occurs in a metabolic disease characterized biochemically by cystathionine β-synthase (CBS) deficiency and clinically by mental retardation, vascular problems, and skeletal abnormalities. Previous

Externí odkaz: https://doaj.org/article/b36ae36dd098482790e2470350a1ab3d

Increased levels of hexacosanoic acid in the brain of Wistar rats: a behavioral study

Autor: Carmen Regla Vargas, Adriana Simon Coitinho, Desirèe Padilha Marchetti, Rafael Bremm Padilha, Daniella de Moura Coelho, Gabriel de Lima Rosa, Edson Fernando Müller Guzzo

Publikováno v: Clinical & Biomedical Research; Vol. 40 No. 3 (2020)
Clinical and Biomedical Research; v. 40 n. 3 (2020)
Clinical and Biomedical Research
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Repositório Institucional da UFRGS
Clinical and Biomedical Research, Vol 40, Iss 3 (2021)

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal metabolic disorder associated with mutations in the ATP-binding cassette sub-family D member1 ( ABCD1 ) gene. Practically all male patients with X-ALD develop adrenocortical insuffi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::109de999b5e74a2e25d53a4757f39d6a
https://seer.ufrgs.br/index.php/hcpa/article/view/103339

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

Autor: Moacir Wajner, Laura Vargas Fleith, Marion Deon, Maria Teresa Vieira Sanseverino, Daniella de Moura Coelho, Carmen Regla Vargas, Luis Pablo Gravina, Carolina Crespo, Larissa Murussi, Angela Sitta, Patrícia Rodrigues da Silva

Publikováno v: Jornal Brasileiro de Patologia e Medicina Laboratorial, Vol 56 (2020)

Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c701769a3f649a605c9aa3ed778847c
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1676-24442020000100702&tlng=pt

Selective Screening of Fatty Acids Oxidation Defects and Organic Acidemias by Liquid Chromatography/tandem Mass Spectrometry Acylcarnitine Analysis in Brazilian Patients

Autor: Angela Sitta, Graziela de Oliveira Schmitt Ribas, Marion Deon, Carmen Regla Vargas, Janine Machado da Silva, Daniella de Moura Coelho, Moacir Wajner

Publikováno v: Archives of Medical Research. 49:205-212

Background Inborn errors of metabolism (IEM) are diseases which can lead to accumulation of toxic metabolites in the organism. Aim of the study To investigate, by selective screening, mitochondrial fatty acid oxidation defects (FAOD) and organic acid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00056c75660db9d28c3ea6f7dd8d157f
https://doi.org/10.1016/j.arcmed.2018.08.004

Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids

Autor: Tatiane Cristina Hauschild, Eduard A. Struys, Carmen Regla Vargas, Vanusa Manfredini, Carlos Eduardo Diaz Jacques, Ângela Sitta, Moacir Wajner, Daiane Rodrigues, Abdellatif Bakkali, Cornelis Jakobs, Daniella de Moura Coelho

Publikováno v: Rodrigues, D G B, de Moura Coelho, D, Sitta, Â, Jacques, C E D, Hauschild, T, Manfredini, V, Bakkali, A, Struys, E A, Jakobs, C, Wajner, M & Vargas, C R 2017, ' Experimental evidence of oxidative stress in patients with L-2-hydroxyglutaric aciduria and that L-carnitine attenuates in vitro DNA damage caused by D-2-hydroxyglutaric and L-2-hydroxyglutaric acids ', Toxicology in Vitro, vol. 42, pp. 47-53 . https://doi.org/10.1016/j.tiv.2017.04.006
Toxicology in Vitro, 42, 47-53. Elsevier Limited

D-2-hydroxyglutaric (D-2-HGA) and L-2-hydroxyglutaric (L-2-HGA) acidurias are rare neurometabolic disorders biochemically characterized by increased levels of D-2-hydroxyglutaric acid (D-2-HG) and L-2-hydroxyglutaric acid (L-2-HG) respectively, in bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f21a6fc4b0bec3f9762fad89a9925dc
https://doi.org/10.1016/j.tiv.2017.04.006