• 1H-NMR spectroscopy of cerebrospinal fluid of fetal sheep during hypoxia-induced acidemia and recovery
• 2-Methylcitric acid impairs glutamate metabolism and induces permeability transition in brain mitochondria
• 3-Hydroxy-3-Methylglutaric Acid Disrupts Brain Bioenergetics, Redox Homeostasis, and Mitochondrial Dynamics and Affects Neurodevelopment in Neonatal Wistar Rats
• A <em>SUCLG1</em> mutation in a patient with mitochondrial DNA depletion and congenital anomalies
• A case of methylmalonic and propionic acidemia due to methulmalonyl-CoA carbonylmutase apoenzyme deficiency
• A case of mitochondrial encephalomyopathy with myoclonic attacks, hyper-lactic-pyruvic acidemia, and decreased activities of complex II and cytochrome c oxidase
• A mitochondrial myopathy with a deficiency of respiratory chain NADH-CoQ reductase activity
• A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability
• A novel mitochondrial DNA variant in <em>MT-ND6:</em> m.14430A&gt;C p.(Trp82Gly) identified in a patient with Leigh syndrome and complex I deficiency
• A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria
• Ammonia potentiates methylmalonic acid-induced convulsions and TBARS production
• Anaplerotic therapy in propionic acidemia
• Autism: Screening of inborn errors of metabolism and unexpected results
• Biochemical and genetic studies in a family with mitochondrial myopathy
• Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
• Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family
• Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity
• Congenital methylmalonic acidemia: enzymatic evidence for two forms of the disease
• Creatine administration prevents Na+,K+-ATPase inhibition induced by intracerebroventricular administration of isovaleric acid in cerebral cortex of young rats
• Creatine prevents behavioral alterations caused by methylmalonic acid administration into the hippocampus of rats in the open field task
• Creatine protects against the convulsive behavior and lactate production elicited by the intrastriatal injection of methylmalonate
• Decreased renal uptake of (99m)Tc-DMSA in patients with tubular proteinuria
• Demonstration of N-dicarboxyl-mono-glycines in dicarboxylic acidurias by mass fragmentography
• Diagnosis of inborn errors of metabolism using filter paper urine, urease treatment, isotope dilution and gas chromatography-mass spectrometry
• Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan
• Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues
• Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children
• Effectiveness of creatine monohydrate on seizures and oxidative damage induced by methylmalonate
• Eleventh week amniocentesis for prenatal diagnosis of some metabolic diseases
• Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism
• Ethylmalonic encephalopathy: further clinical and neuroradiological characterization
• Evidence that 3-hydroxyisobutyric acid inhibits key enzymes of energy metabolism in cerebral cortex of young rats
• Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant
• Experimental evidence that maleic acid markedly compromises glutamate oxidation through inhibition of glutamate dehydrogenase and alpha-ketoglutarate dehydrogenase activities in kidney of developing rats
• Experimental evidence that maleic acid markedly compromises glutamate oxidation through inhibition of glutamate dehydrogenase and α-ketoglutarate dehydrogenase activities in kidney of developing rats
• Fatal hepatic failure with lactic acidaemia, Fanconi syndrome and defective activity of succinate:cytochrome c reductase
• Fatal lactic acidosis in infancy with a defect of complex III of the respiratory chain
• Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria
• Fumarase deficiency: a new cause of mitochondrial encephalomyopathy
• Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience
• Glutaric acid moderately compromises energy metabolism in rat brain
• Glutaric aciduria type 1 metabolites impair the succinate transport from astrocytic to neuronal cells
• Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China
• High-throughput analysis of total homocysteine and methylmalonic acid with the efficiency to separate succinic acid in serum and urine via liquid chromatography tandem mass spectrometry
• Identification of potential interferents of methylmalonic acid: A previously unrecognized pitfall in clinical diagnostics and newborn screening
• Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria
• Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
• In vitro "responsive" methylmalonic acidemia: a new variant
• Infant boy with propionic acidemia: anesthetic implications
• Infant mice with glutaric acidaemia type I have increased vulnerability to 3-nitropropionic acid toxicity
• Inherited metabolic disorders in Thailand
• Inhibition of energy metabolism by 2-methylacetoacetate and 2-methyl-3-hydroxybutyrate in cerebral cortex of developing rats
• Inhibition of energy production in vitro by glutaric acid in cerebral cortex of young rats
• Inhibition of succinate dehydrogenase and beta-hydroxybutyrate dehydrogenase activities by methylmalonate in brain and liver of developing rats
• Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid
• Intrastriatal malonate administration induces convulsive behaviour in rats
• Lactate dehydrogenase activity is inhibited by methylmalonate in vitro
• Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders
• Metabolism of [1-(14)C] and [2-(14)C] leucine in cultured skin fibroblasts from patients with isovaleric acidemia. Characterization of metabolic defects
• Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake
• Methylmalonate-induced seizures are attenuated in inducible nitric oxide synthase knockout mice
• Microdetermination of methylmalonic acid and other short chain dicarboxylic acids by gas chromatography: use in prenatal diagnosis of methylmalonic acidemia and in studies of isovaleric acidemia
• Mitochondrial electron transport chain defect presenting as hypoglycemia
• Mitochondrial energy metabolism is markedly impaired by D-2-hydroxyglutaric acid in rat tissues
• Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debre syndrome and a disturbed succinate: cytochrome c oxidoreductase activity
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes with recurrent abdominal symptoms and coenzyme Q10 administration
• Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome
• Mitochondrial myopathy. Biochemical studies revealing a deficiency of NADH--cytochrome b reductase activity
• Multiplexed LC-MS/MS analysis of methylsuccinic acid, ethylmalonic acid, and glutaric acid in plasma and urine
• NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings
• Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene
• Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations
• Novel compound heterozygous SUCLG1 variants may contribute to mitochondria DNA depletion syndrome-9
• Prenatal therapy of a patient with vitamin-B12-responsive methylmalonic acidemia
• Propionate metabolism in cells cultured from a patient with methylmalonic acidemia
• Quantifying MMA by SLE LC-MS/MS: Unexpected challenges in assay development
• Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase
• Report of a patient with severe, chronic lactic acidaemia and pyruvate carboxylase deficiency
• Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms
• Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data
• Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
• Succinic acidemia is not a new syndrome of organic acidemia
• Succinic acidemia: a new syndrome of organic acidemia associated with congenital lactic acidosis and decreased NADH-cytochrome c reductase activity
• SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature
• The effect of malate on propionate mitochondrial toxicity
• Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
• Unusual Metabolites in a Patient with Isovaleric Acidemia