Protective effects of L-carnitine on behavioral alterations and neuroinflammation in striatum of glutaryl-COA dehydrogenase deficient mice

Elevated levels of BDNF and cathepsin‐ d as possible peripheral markers of neurodegeneration in plasma of patients with glutaric acidemia type I

(2020) Gilian Guerreiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Neurological manifestations of organic acidurias

(2019) Moacir Wajner   Nature Reviews Neurology

Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model

(2019) Moacir Wajner et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

l-Carnitine prevents oxidative stress in striatum of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload

(2019) Gilian Guerreiro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Newborn screening: A disease-changing intervention for glutaric aciduria type 1

(2018) Nikolas Boy et al.   ANNALS OF NEUROLOGY

Long Lasting High Lysine Diet Aggravates White Matter Injury in Glutaryl-CoA Dehydrogenase Deficient (Gcdh−/−) Mice

(2018) Silvia Olivera-Bravo et al.   MOLECULAR NEUROBIOLOGY

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

(2017) Daiane Grigolo Bardemaker Rodrigues et al.   TOXICOLOGY IN VITRO

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

(2016) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Role of Cathepsin D in the Pathogenesis of Human Neurodegenerative Disorders

(2016) Chiara Vidoni et al.   MEDICINAL RESEARCH REVIEWS

Oxidative stress and mitochondrial dysfunction-linked neurodegenerative disorders

(2016) Md. Torequl Islam   NEUROLOGICAL RESEARCH

Experimental evidence that bioenergetics disruption is not mainly involved in the brain injury of glutaryl-CoA dehydrogenase deficient mice submitted to lysine overload

(2015) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Urinary biomarkers of oxidative damage in Maple syrup urine disease: The l-carnitine role

(2015) Gilian Guerreiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Experimental evidence that overexpression of NR2B glutamate receptor subunit is associated with brain vacuolation in adult glutaryl-CoA dehydrogenase deficient mice: A potential role for glutamatergic-induced excitotoxicity in GA I neuropathology

(2015) Marília Danyelle Nunes Rodrigues et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

L-carnitine Prevents Oxidative Stress in the Brains of Rats Subjected to a Chemically Induced Chronic Model of MSUD

(2015) Caroline Paula Mescka et al.   MOLECULAR NEUROBIOLOGY

Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I

(2015) Bianca Seminotti et al.   MOLECULAR NEUROBIOLOGY

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

(2013) Johannes Pfeil et al.   Orphanet Journal of Rare Diseases

Neurodevelopmental and cognitive behavior of glutaryl-CoA dehydrogenase deficient knockout mice

(2012) Estela Natacha Brandt Busanello et al.   LIFE SCIENCES

Disruption of brain redox homeostasis in glutaryl-CoA dehydrogenase deficient mice treated with high dietary lysine supplementation

(2012) Bianca Seminotti et al.   MOLECULAR GENETICS AND METABOLISM

Neuroprotective properties of resveratrol and derivatives

(2011) Tristan Richard et al.   Annals of the New York Academy of Sciences

Oxidative Stress Parameters in Urine from Patients with Disorders of Propionate Metabolism: a Beneficial Effect of l-Carnitine Supplementation

(2011) Graziela S. Ribas et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Pathogenesis of aortic dilatation in mucopolysaccharidosis VII mice may involve complement activation

(2011) Guilherme Baldo et al.   MOLECULAR GENETICS AND METABOLISM

Use of guidelines improves the neurological outcome in glutaric aciduria type I

(2010) Jana Heringer et al.   ANNALS OF NEUROLOGY