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Akademický článek

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

Autor: Carmen R Vargas, Marion Deon, Angela Sitta, Daniella M Coelho, Patricia D Silva, Larissa Murussi, Laura V Fleith, Carolina Crespo, Moacir Wajner, Maria Teresa V Sanseverino

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

ABSTRACT 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 spectrometr

Externí odkaz: https://doaj.org/article/c9665c6483064fb6833ac07cef77cea6

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Akademický článek

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels

Autor: Bruna Donida, Desirèe P. Marchetti, Carlos Eduardo Diaz Jacques, Graziela Ribas, Marion Deon, Paula Manini, Helen Tais da Rosa, Dinara Jaqueline Moura, Jenifer Saffi, Roberto Giugliani, Carmen Regla Vargas

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 46-53 (2017)

Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs)

Externí odkaz: https://doaj.org/article/fe0ec210696843fbbba3498aa68f3530

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Akademický článek

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Autor: Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas

Publikováno v: Genetics and Molecular Biology, Iss 0 (2019)

Abstract Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects t

Externí odkaz: https://doaj.org/article/b3e04545929a400c9be08464894f0338

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Akademický článek

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

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Akademický článek

In vitro effect of N-acetyl-L-cysteine on glutathione and sulfhydryl levels in X-linked adrenoleukodystrophy patients

Autor: Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas

Publikováno v: Clinical and Biomedical Research, Vol 37, Iss 1 (2017)

Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (

Externí odkaz: https://doaj.org/article/ececda4a6ead42a1a346a4cf0248d50a

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Increased cytokine levels induced by high phenylalanine concentrations in late diagnosis PKU patients compared to early diagnosis: Anti‐inflammatory effect of L‐carnitine

Autor: Jéssica Lamberty Faverzani, Tatiane Grazieli Hammerschmidt, Caroline Paula Mescka, Gilian Guerreiro, Franciele Fatima Lopes, Camila Aguilar Delgado, Daniella de Moura Coelho, Angela Sitta, Marion Deon, Moacir Wajner, Carmen Regla Vargas

Publikováno v: Cell Biochemistry and Function.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2d88437bbdb81c5ff2cc4ec63e4b2511
https://doi.org/10.1002/cbf.3800

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Evaluation of biochemical profile and oxidative damage to lipids and proteins in patients with lysosomal acid lipase deficiency

Autor: Gilian Guerreiro, Marion Deon, Carmen Regla Vargas

Publikováno v: Biochemistry and Cell Biology.

Lysosomal acid lipase deficiency (LALD) is an inborn error of metabolism that lacks satisfactory treatment, which leads to the development of severe hepatic and cardiac complications and may even lead to death. In this sense, knowledge of the mechani

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::fead490dcb37f469dbae945e29a7a24d
https://doi.org/10.1139/bcb-2022-0330

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High-protein nutrition during pregnancy increases neuroinflammation and homocysteine levels and impairs behavior in male adolescent rats offspring

Autor: Josiane Silva, Silveira, Osmar Vieira Ramires, Júnior, Felipe, Schmitz, Fernanda Silva, Ferreira, Fabiana Cristina, Rodrigues, Marion, Deon, Graziella, Ribas, Robson, Coutinho-Silva, Carmen Regla, Vargas, Luiz Eduardo Baggio, Savio, Angela T S, Wyse

Publikováno v: Life Sciences. 310:121084

Throughout gestation, proteins in the diet are a source of essential amino acids that are crucial for proper healthy fetal growth and development. The present study was proposed to investigate the effect of high-protein diet consumption throughout pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2ced38ac8cce4a01faec334cd644a06
https://doi.org/10.1016/j.lfs.2022.121084

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Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Autor: Carmen Regla Vargas, Daniella de Moura Coelho, Marion Deon, Ana Carolina Groehs, Angela Sitta, Aline Kayser, Moacir Wajner

Publikováno v: Genetics and Molecular Biology
Genetics and Molecular Biology, Issue: ahead, Published: 11 APR 2019
Genetics and Molecular Biology, Volume: 42, Issue: 1 Supplement 1, Pages: 178-185, Published: 11 APR 2019
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Genetics and Molecular Biology, Iss 0 (2019)
Genetics and Molecular Biology v.42 n.1 suppl.1 2019
Sociedade Brasileira de Genética (SBG)
instacron:SBG

Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell me

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a8361a94b533552f34708f454e48902
https://doi.org/10.1590/1678-4685-gmb-2018-0105

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