ethyl malonic acid, 601-75-2

Articles:

PubMed:	Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.
PubMed:	Identification and Quantitation of Malonic Acid Biomarkers of In-Born Error Metabolism by Targeted Metabolomics.
PubMed:	Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review.
PubMed:	Short-Term Pretreatment of Sub-Inhibitory Concentrations of Gentamycin Inhibits the Swarming Motility of Escherichia Coli by Down-Regulating the Succinate Dehydrogenase Gene.
PubMed:	Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
PubMed:	Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.
PubMed:	The role of previously unmeasured organic acids in the pathogenesis of severe malaria.
PubMed:	A case report of short-chain acyl-CoA dehydrogenase deficiency (SCADD).
PubMed:	Brain and muscle redox imbalance elicited by acute ethylmalonic acid administration.
PubMed:	Disturbance of energy and redox homeostasis and reduction of Na+,K+-ATPase activity provoked by in vivo intracerebral administration of ethylmalonic acid to young rats.
PubMed:	Effects of a dietary sweetener on growth performance and health of stressed beef calves and on diet digestibility and plasma and urinary metabolite concentrations of healthy calves.
PubMed:	Ethylmalonic acid induces permeability transition in isolated brain mitochondria.
PubMed:	Liquid chromatographic-mass spectrometric method for simultaneous determination of small organic acids potentially contributing to acidosis in severe malaria.
PubMed:	A Patient with Congenital Generalized Lipodystrophy Due To a Novel Mutation in BSCL2: Indications for Secondary Mitochondrial Dysfunction.
PubMed:	Ethylmalonic acid modulates Na+, K(+)-ATPase activity and mRNA levels in rat cerebral cortex.
PubMed:	First case report of short-chain acyl-CoA dehydrogenase deficiency in China.
PubMed:	Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs.
PubMed:	An infant with ethylmalonic encephalopathy masquerading as a hematologic disorder.
PubMed:	Arabidopsis ETHE1 encodes a sulfur dioxygenase that is essential for embryo and endosperm development.
PubMed:	A Rare Case of Short-Chain Acyl-COA Dehydrogenase Deficiency: The Apparent Rarity of the Disorder Results in Under Diagnosis.
PubMed:	Ethylmalonic encephalopathy associated with crescentic glomerulonephritis.
PubMed:	Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California.
PubMed:	Ethylmalonic acid impairs brain mitochondrial succinate and malate transport.
PubMed:	Synthesis, structural analysis, and magnetic properties of ethylmalonate-manganese(II) complexes.
PubMed:	Decreased oxidative phosphorylation and PGAM deficiency in horses suffering from atypical myopathy associated with acquired MADD.
PubMed:	Clinical and neuropathological picture of ethylmalonic aciduria - diagnostic dilemma.
PubMed:	Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency.
PubMed:	Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy.
PubMed:	Streamlined pentafluorophenylpropyl column liquid chromatography-tandem quadrupole mass spectrometry and global (13)C-labeled internal standards improve performance for quantitative metabolomics in bacteria.
PubMed:	Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy.
PubMed:	Ethylmalonic encephalopathy: application of improved biochemical and molecular diagnostic approaches.
PubMed:	Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.
PubMed:	Clinical aspects of short-chain acyl-CoA dehydrogenase deficiency.
PubMed:	Silent increase of urinary ethylmalonic acid is an indicator of nonspecific brain dysfunction.
PubMed:	Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency.
PubMed:	Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency.
PubMed:	Promotion of lipid and protein oxidative damage in rat brain by ethylmalonic acid.
PubMed:	Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
PubMed:	Short-chain acyl-coenzyme A dehydrogenase deficiency.
PubMed:	Chronic early postnatal administration of ethylmalonic acid to rats causes behavioral deficit.
PubMed:	[Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable fenotype; neonatal screening not indicated].
PubMed:	Severe infantile hypotonia with ethylmalonic aciduria: case report.
PubMed:	The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
PubMed:	Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
PubMed:	A new case of short-chain acyl-CoA dehydrogenase deficiency: clinical, biochemical, genetic and (1)H-NMR spectroscopic studies.
PubMed:	Ethylmalonic encephalopathy: clinical and biochemical observations.
PubMed:	Lessons to learn from rare inborn errors of metabolism.
PubMed:	Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
PubMed:	Development of a newborn screening follow-up algorithm for the diagnosis of isobutyryl-CoA dehydrogenase deficiency.
PubMed:	Single-nucleotide variations in the genes encoding the mitochondrial Hsp60/Hsp10 chaperone system and their disease-causing potential.
PubMed:	Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency.
PubMed:	Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy.
PubMed:	A case of ethylmalonic encephalopathy with atypical clinical and biochemical presentation.
PubMed:	Effect of in vivo administration of ethylmalonic acid on energy metabolism in rat tissues.
PubMed:	Inhibition of the electron transport chain and creatine kinase activity by ethylmalonic acid in human skeletal muscle.
PubMed:	Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D- and L-2 hydroxyglutaric aciduria.
PubMed:	Ethylmalonic encephalopathy-report of two cases.
PubMed:	ETHE1 mutations are specific to ethylmalonic encephalopathy.
PubMed:	Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency.
PubMed:	Acyl-CoA dehydrogenase deficiency: varieties with neurological involvement.
PubMed:	Recent developments and new applications of tandem mass spectrometry in newborn screening.
PubMed:	The role of methionine in ethylmalonic encephalopathy with petechiae.
PubMed:	Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
PubMed:	[Late-onset riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency (glutaric aciduria type II)].
PubMed:	Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder.
PubMed:	A comparison of in vitro acylcarnitine profiling methods for the diagnosis of classical and variant short chain acyl-CoA dehydrogenase deficiency.
PubMed:	Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
PubMed:	Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.
PubMed:	Ethylmalonic acid inhibits mitochondrial creatine kinase activity from cerebral cortex of young rats in vitro.
PubMed:	Inhibition of creatine kinase activity in vitro by ethylmalonic acid in cerebral cortex of young rats.
PubMed:	Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.
PubMed:	Purification and characterization of two polymorphic variants of short chain acyl-CoA dehydrogenase reveal reduction of catalytic activity and stability of the Gly185Ser enzyme.
PubMed:	Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.
PubMed:	Therapeutic trial in the first three Asian cases of ethylmalonic encephalopathy: response to riboflavin.
PubMed:	ENDOR studies of VO2+: probing protein-metal ion interactions in nephrocalcin.
PubMed:	Efficient deuterium-carbon REDOR NMR spectroscopy.
PubMed:	Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygen.
PubMed:	Urinary organic acid screening in children with developmental language delay.
PubMed:	Clinical and brain 18fluoro-2-deoxyglucose positron emission tomographic findings in ethylmalonic aciduria, a progressive neurometabolic disease.
PubMed:	Adsorption of small hydroxy acids on glass: a pitfall in quantitative urinary organic acid analysis by GC-MS.
PubMed:	A polymorphic variant in the human electron transfer flavoprotein alpha-chain (alpha-T171) displays decreased thermal stability and is overrepresented in very-long-chain acyl-CoA dehydrogenase-deficient patients with mild childhood presentation.
PubMed:	Riboflavin and riboflavin-derived cofactors in adolescent girls with anorexia nervosa.
PubMed:	Ethylmalonic and methylsuccinic aciduria in ethylmalonic encephalopathy arise from abnormal isoleucine metabolism.
PubMed:	[Malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiency].
PubMed:	Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria.
PubMed:	Mild or absent clinical signs in twin sisters with short-chain acyl-CoA dehydrogenase deficiency.
PubMed:	Central nervous system malformations in ethylmalonic encephalopathy.
PubMed:	Structural organization of the human short-chain acyl-CoA dehydrogenase gene.
PubMed:	Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria.
PubMed:	Stridor as the major presenting symptom in riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.
PubMed:	Ethylmalonic adipic aciduria--a treatable hepatomuscular disorder in two adult brothers.
PubMed:	Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.
PubMed:	Indirect ultraviolet detection of biologically relevant organic acids by capillary electrophoresis.
PubMed:	Clinical and biochemical characterization of short-chain acyl-coenzyme A dehydrogenase deficiency.
PubMed:	Ethylmalonic aciduria: an organic acidemia with CNS involvement and vasculopathy.
PubMed:	Amino acid polymorphism (Gly209Ser) in the ACADS gene.
PubMed:	Determination of methylmalonic acid by high-performance liquid chromatography.
PubMed:	A new syndrome with ethylmalonic aciduria and normal fatty acid oxidation in fibroblasts.
PubMed:	Muscle cytochrome c oxidase deficiency in two Italian patients with ethylmalonic aciduria and peculiar clinical phenotype.
PubMed:	A new case of short-chain acyl-CoA dehydrogenase deficiency with isolated ethylmalonic aciduria.
PubMed:	Breeding experiments to combine the X-linked sparse-fur (spf) mutation with the autosomal recessive BALB/cByJ strain: testing the biochemical phenotype of double-mutant mice as a model for ammonia: fatty acyl CoA synergism.
PubMed:	Eating disorder in a 6-year-old Asian girl with ethyl malonic adipic aciduria.
PubMed:	[Synthesis and pharmacological activity of ethyl N-acetic and N-malonic esters of heterocyclic derivatives].
PubMed:	Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism?
PubMed:	Ethylmalonic aciduria associated with progressive neurological disease and partial cytochrome c oxidase deficiency.
PubMed:	New clinical phenotype of branched-chain acyl-CoA oxidation defect.
PubMed:	Ethylmalonic/adipic aciduria: effects of oral medium-chain triglycerides, carnitine, and glycine on urinary excretion of organic acids, acylcarnitines, and acylglycines.
PubMed:	Possible deleterious effect of L-carnitine supplementation in a patient with mild multiple acyl-CoA dehydrogenation deficiency (ethylmalonic-adipic aciduria).
PubMed:	Riboflavin responsive ethylmalonic-adipic aciduria in a 9-month-old boy with liver cirrhosis, myopathy and encephalopathy.
PubMed:	Valproate-induced coma with ketosis and carnitine insufficiency.
PubMed:	Organic acid and acylcarnitine profiles of glutaric aciduria type I.
PubMed:	Sudden infant death syndrome and inherited disorders of fatty acid beta-oxidation.
PubMed:	Progressive fatal pancytopenia, psychomotor retardation and muscle carnitine deficiency in a child with ethylmalonic aciduria and ethylmalonic acidaemia.
PubMed:	Methylmalonic acid in the diagnosis of cobalt deficiency in barley-fed lambs.
PubMed:	Organic aciduria and butyryl CoA dehydrogenase deficiency in BALB/cByJ mice.
PubMed:	Short-chain acyl-coenzyme A dehydrogenase deficiency in mice.
PubMed:	Sudden infant death syndrome and multiple acyl-coenzyme A dehydrogenase deficiency, ethylmalonic-adipic aciduria, or systemic carnitine deficiency.
PubMed:	Short-chain acyl-coenzyme A dehydrogenase deficiency. Clinical and biochemical studies in two patients.
PubMed:	Biosynthesis of electron transfer flavoprotein in a cell-free system and in cultured human fibroblasts. Defect in the alpha subunit synthesis is a primary lesion in glutaric aciduria type II.
PubMed:	Riboflavin responsive multiple acyl-CoA dehydrogenation deficiency. Assessment of 3 years of riboflavin treatment.
PubMed:	The multiple acyl-coenzyme A dehydrogenation disorders, glutaric aciduria type II and ethylmalonic-adipic aciduria. Mitochondrial fatty acid oxidation, acyl-coenzyme A dehydrogenase, and electron transfer flavoprotein activities in fibroblasts.
PubMed:	Model for calcium binding to gamma-carboxyglutamic acid residues of proteins: crystal structure of calcium alpha-ethylmalonate.
PubMed:	Riboflavin-responsive ethylmalonic-adipic aciduria.
PubMed:	Multiple acyl-CoA dehydrogenase deficiency: a neonatal onset case responsive to treatment.
PubMed:	Electron-transferring flavoprotein deficiency in the multiple acyl-CoA dehydrogenation disorders, glutaric aciduria type II and ethylmalonic--adipic aciduria.
PubMed:	Metabolism of ethylmalonate to mesaconate in the rat. Evidence for trans-dehydrogenation of methylsuccinate.
PubMed:	The urinary excretion of ethylmalonic acid: what level requires further attention?
PubMed:	C6-C10-dicarboxylic aciduria: investigations of a patient with riboflavin responsive multiple acyl-CoA dehydrogenation defects.
PubMed:	Recurrent hypoglycemia associated with glutaric aciduria type II in an adult.
PubMed:	Metabolism in rats in vivo of RS-2-methylbutyrate and n-butyrate labeled with stable isotopes at various positions. Mechanism of biosynthesis and degradation of ethylmalonyl semialdehyde and ethylmalonic acid.
PubMed:	Investigation of the mechanism of the methylmalonyl-CoA mutase reaction with the substrate analogue: ethylmalonyl-CoA.
PubMed:	Studies on the biosynthesis of 16-membered macrolide antibiotics using carbon-13 nuclear magnetic resonance spectroscopy.
PubMed:	Demonstration of a new mammalian isoleucine catabolic pathway yielding an Rseries of metabolites.
PubMed:	Identification of ethylmalonic acid in urine of two patients with the vomitting sickness of Jamaica.
PubMed:	A simplified and rapid quantitative assay for propionic and methylmalonic acids in urine.