Title: Development of an isotope labeling ultra-high performance liquid chromatography mass spectrometric method for quantification of acylglycines in human urine.
Journal: Analytica chimica acta 20121031
Title: Cannabinoid receptor antagonist-induced striated muscle toxicity and ethylmalonic-adipic aciduria in beagle dogs.
Journal: Toxicological sciences : an official journal of the Society of Toxicology 20121001
Title: Fatty Acid Accumulation and Resulting PPARα Activation in Fibroblasts due to Trifunctional Protein Deficiency.
Journal: PPAR research 20120101
Title: Newborn screening for medium chain acyl-CoA dehydrogenase deficiency in England: prevalence, predictive value and test validity based on 1.5 million screened babies.
Journal: Journal of medical screening 20111201
Title: Radiation metabolomics. 4. UPLC-ESI-QTOFMS-Based metabolomics for urinary biomarker discovery in gamma-irradiated rats.
Journal: Radiation research 20110401
Title: Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
Journal: Journal of inherited metabolic disease 20110201
Title: Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency.
Journal: The Korean journal of laboratory medicine 20110101
Title: Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.
Journal: Orphanet journal of rare diseases 20110101
Title: Computational analysis of a novel mutation in ETFDH gene highlights its long-range effects on the FAD-binding motif.
Journal: BMC structural biology 20110101
Title: Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing.
Journal: Molecular genetics and metabolism 20100701
Title: Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Journal: Molecular genetics and metabolism 20100301
Title: A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.
Journal: Orphanet journal of rare diseases 20100101
Title: The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario.
Journal: BMC pediatrics 20100101
Title: Detection of urinary hexanoylglycine in the diagnosis of MCAD deficiency from newborn screening.
Journal: Journal of inherited metabolic disease 20080801
Title: Alterations of the tear film and ocular surface health in chronic smokers.
Journal: Eye (London, England) 20080701
Title: Radiation metabolomics. 1. Identification of minimally invasive urine biomarkers for gamma-radiation exposure in mice.
Journal: Radiation research 20080701
Title: Acquired multiple Acyl-CoA dehydrogenase deficiency in 10 horses with atypical myopathy.
Journal: Neuromuscular disorders : NMD 20080501
Title: Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
Journal: American journal of medical genetics. Part A 20080201
Title: Metabolomic and genetic analysis of biomarkers for peroxisome proliferator-activated receptor alpha expression and activation.
Journal: Molecular endocrinology (Baltimore, Md.) 20070901
Title: Equine biochemical multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of rhabdomyolysis.
Journal: Molecular genetics and metabolism 20070801
Title: Acute liver failure in pregnancy associated with maternal MCAD deficiency.
Journal: Journal of inherited metabolic disease 20070201
Title: Refractory seizures associated with an organic aciduria in a dog.
Journal: Journal of the American Animal Hospital Association 20070101
Title: Na+, K+ ATPase activity is markedly reduced by cis-4-decenoic acid in synaptic plasma membranes from cerebral cortex of rats.
Journal: Experimental neurology 20060101
Title: Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations.
Journal: Molecular genetics and metabolism 20060101
Title: Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice.
Journal: PLoS genetics 20050801
Title: [Modification of the conjuntival flora with cleaning palpebral solutions].
Journal: Archivos de la Sociedad Espanola de Oftalmologia 20041201
Title: [Effect of L-carnitine on metabolic disorders in rats with experimental acyl-CoA dehydrogenase deficiency].
Journal: Eksperimental'naia i klinicheskaia farmakologiia 20040101
Title: Compound heterozygosity in four asymptomatic siblings with medium-chain acyl-CoA dehydrogenase deficiency.
Journal: Journal of inherited metabolic disease 20010601
