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l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

Gene, 2014-01, Vol.533 (2), p.469-476

2014

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

Genetics and molecular biology, 2019-01, Vol.42 (1 suppl 1), p.178-185

2019

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In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters

Anais da Academia Brasileira de Ciências, 2019-01, Vol.91 (2), p.e20181373-e20181373

2019

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Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

Genetics and molecular biology, 2020-01, Vol.43 (3), p.20190298-20190298

2020

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The Role of Hyperhomocysteinemia in Disease

Journal of inborn errors of metabolism and screening, 2018-08, Vol.6, p.232640981879624

2018

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

Jornal brasileiro de patologia e medicina laboratorial, 2020, Vol.56

2020

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The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy

Molecular genetics and metabolism, 2012-06, Vol.106 (2), p.231-236

2012

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Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers

European journal of neurology, 2019-08, Vol.26 (8), p.e76-e76

2019

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Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10

Experimental cell research, 2022-07, Vol.416 (2), p.113175-113175, Article 113175

2022

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Oxidative Stress in Phenylketonuria: What is the Evidence?

Cellular and molecular neurobiology, 2011-07, Vol.31 (5), p.653-662

2011

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Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results

Naunyn-Schmiedeberg's archives of pharmacology, 2023-07, Vol.396 (7), p.1563-1569

2023

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Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy

Biochimica et biophysica acta, 2012-02, Vol.1822 (2), p.226-232

2012

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Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β‐cyclodextrin nanoparticles

Metabolic brain disease, 2023-02, Vol.38 (2), p.507-518

2023

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Methylphenidate Decreases ATP Levels and Impairs Glutamate Uptake and Na+,K+-ATPase Activity in Juvenile Rat Hippocampus

Molecular neurobiology, 2017-12, Vol.54 (10), p.7796-7807

2017

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Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C

Journal of inherited metabolic disease, 2020-05, Vol.43 (3), p.586-601

2020

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Urinary biomarkers of oxidative stress and plasmatic inflammatory profile in phenylketonuric treated patients

International journal of developmental neuroscience, 2015-12, Vol.47 (Part_B), p.259-265

2015

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Neurological Damage in MSUD: The Role of Oxidative Stress

Cellular and molecular neurobiology, 2014-03, Vol.34 (2), p.157-165

2014

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Characterization of macrophage phenotype, redox, and purinergic response upon chronic treatment with methionine and methionine sulfoxide in mice

Amino acids, 2020-04, Vol.52 (4), p.629-638

2020

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Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and Rosuvastatin

Cellular and molecular neurobiology, 2018-11, Vol.38 (8), p.1505-1516

2018

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Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy

International journal of developmental neuroscience, 2012-10, Vol.30 (6), p.439-444

2012

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Protective effect of L-carnitine on Phenylalanine-induced DNA damage

Metabolic brain disease, 2015-08, Vol.30 (4), p.925-933

2015

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Protective effect of antioxidants on DNA damage in leukocytes from X-linked adrenoleukodystrophy patients

International journal of developmental neuroscience, 2015-06, Vol.43 (1), p.8-15

2015

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Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: Antioxidant protection

The international journal of biochemistry & cell biology, 2014-09, Vol.54, p.20-25

2014

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Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy

Molecular genetics and metabolism, 2011-06, Vol.103 (2), p.121-127

2011

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Experimental Evidence that Phenylalanine Provokes Oxidative Stress in Hippocampus and Cerebral Cortex of Developing Rats

Cellular and molecular neurobiology, 2010-03, Vol.30 (2), p.317-326

2010

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l-carnitine supplementation as a potential antioxidant therapy for inherited neurometabolic disorders

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

In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in south Brazil

The Role of Hyperhomocysteinemia in Disease

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

The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy

Concerning to Schirinzi et al., Natural history of a cohort of ABCD1 variant female carriers

Cytokine profile and cholesterol levels in patients with Niemann-Pick type C disease presenting neurological symptoms: in vivo effect of miglustat and in vitro effect of N-acetylcysteine and coenzyme Q10

Oxidative Stress in Phenylketonuria: What is the Evidence?

Beneficial in vitro effect of N-acetylcysteine and coenzyme Q10 on DNA damage in neurodegenerative Niemann-Pick type C 1 disease: preliminary results

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy

Evidence of redox imbalance and mitochondrial dysfunction in Niemann-Pick type C 1 patients: the in vitro effect of combined therapy with antioxidants and β‐cyclodextrin nanoparticles

Methylphenidate Decreases ATP Levels and Impairs Glutamate Uptake and Na+,K+-ATPase Activity in Juvenile Rat Hippocampus

Nanoparticles containing β‐cyclodextrin potentially useful for the treatment of Niemann‐Pick C

Urinary biomarkers of oxidative stress and plasmatic inflammatory profile in phenylketonuric treated patients

Neurological Damage in MSUD: The Role of Oxidative Stress

Characterization of macrophage phenotype, redox, and purinergic response upon chronic treatment with methionine and methionine sulfoxide in mice

Oxidative Imbalance, Nitrative Stress, and Inflammation in C6 Glial Cells Exposed to Hexacosanoic Acid: Protective Effect of N-acetyl-l-cysteine, Trolox, and Rosuvastatin

Oxidative stress in Niemann-Pick type C patients: a protective role of N-butyl-deoxynojirimycin therapy

Protective effect of L-carnitine on Phenylalanine-induced DNA damage

Protective effect of antioxidants on DNA damage in leukocytes from X-linked adrenoleukodystrophy patients

Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: Antioxidant protection

Oxidative stress in patients with mucopolysaccharidosis type II before and during enzyme replacement therapy

Experimental Evidence that Phenylalanine Provokes Oxidative Stress in Hippocampus and Cerebral Cortex of Developing Rats

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