Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats

Survey of health status and complications among propionic acidemia patients

(2012) Loren Pena et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?

(2012) Tamaris Zwickler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Functional characterization of novel genotypes and cellular oxidative stress studies in propionic acidemia

(2012) Lorena Gallego-Villar et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ammonia toxicity to the brain

(2012) Olivier Braissant et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Impairment of brain redox homeostasis caused by the major metabolites accumulating in hyperornithinemia–hyperammonemia–homocitrullinuria syndrome in vivo

(2012) Carolina Maso Viegas et al.   METABOLIC BRAIN DISEASE

Neurocognitive Phenotype of Isolated Methylmalonic Acidemia

(2012) C. J. O'Shea et al.   PEDIATRICS

Experimental Evidence that Methylmalonic Acid Provokes Oxidative Damage and Compromises Antioxidant Defenses in Nerve Terminal and Striatum of Young Rats

(2011) Carolina Gonçalves Fernandes et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

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

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

(2011) Moacir Wajner et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

(2011) Konstantina Fragaki et al.   MITOCHONDRION

Acute management of propionic acidemia

(2011) Kimberly A. Chapman et al.   MOLECULAR GENETICS AND METABOLISM

Neurologic considerations in propionic acidemia

(2011) John Schreiber et al.   MOLECULAR GENETICS AND METABOLISM

Spontaneous Rapid Resolution of Acute Basal Ganglia Changes in an Untreated Infant with Propionic Acidemia: A Clue to Pathogenesis?

(2011) A. Broomfield et al.   NEUROPEDIATRICS

Dual mechanism of brain damage induced in vivo by the major metabolites accumulating in hyperornithinemia–hyperammonemia–homocitrullinuria syndrome

(2010) Carolina Maso Viegas et al.   BRAIN RESEARCH

Cysteine residues exposed on protein surfaces are the dominant intramitochondrial thiol and may protect against oxidative damage

(2010) Raquel Requejo et al.   FEBS Journal

Reduction of lipid and protein damage in patients with disorders of propionate metabolism under treatment: a possible protective role of l-carnitine supplementation

(2010) Graziela S. Ribas et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Prevention by l-carnitine of DNA damage induced by propionic and l-methylmalonic acids in human peripheral leukocytes in vitro

(2010) Graziela S. Ribas et al.   MUTATION RESEARCH-GENETIC TOXICOLOGY AND ENVIRONMENTAL MUTAGENESIS

Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC)

(2009) Eva Richard et al.   HUMAN MUTATION

Experimental models of hepatic encephalopathy: ISHEN guidelines

(2009) Roger F. Butterworth et al.   LIVER INTERNATIONAL

Epilepsy in Patients with Propionic Acidemia

(2009) E. Haberlandt et al.   NEUROPEDIATRICS

Quantifying the global cellular thiol-disulfide status

(2009) R. E. Hansen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Selective screening for organic acidemias by urine organic acid GC–MS analysis in Brazil: Fifteen-year experience

(2008) Moacir Wajner et al.   CLINICA CHIMICA ACTA

Mitochondrial dysfunction in mut methylmalonic acidemia

(2008) Randy J. Chandler et al.   FASEB JOURNAL

Methylmalonate-induced seizures are attenuated in inducible nitric oxide synthase knockout mice

(2008) Leandro Rodrigo Ribeiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE