Title: Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency.
Journal: International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 20120801
Title: Increased mitochondrial substrate sensitivity in skeletal muscle of patients with type 2 diabetes.
Journal: Diabetologia 20110601
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: Mitochondrial respiration in subcutaneous and visceral adipose tissue from patients with morbid obesity.
Journal: The Journal of physiology 20100615
Title: Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency.
Journal: Clinical chemistry 20100601
Title: Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry.
Journal: Clinica chimica acta; international journal of clinical chemistry 20100502
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: Mitochondrial fatty acid oxidation and oxidative stress: lack of reverse electron transfer-associated production of reactive oxygen species.
Journal: Biochimica et biophysica acta 20100101
Title: Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected].
Journal: Clinical genetics 20090801
Title: Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening.
Journal: Pediatrics 20080501
Title: Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism.
Journal: Journal of biomolecular screening 20060201
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: Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective.
Journal: Journal of inherited metabolic disease 20060101
Title: Crystal structure of mouse carnitine octanoyltransferase and molecular determinants of substrate selectivity.
Journal: The Journal of biological chemistry 20050107
Title: Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics 20050101
Title: Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?
Journal: Journal of inherited metabolic disease 20040101
Title: Molecular identification of a novel carnitine transporter specific to human testis. Insights into the mechanism of carnitine recognition.
Journal: The Journal of biological chemistry 20020927
Title: Relevance of fatty acid oxidation in regulation of the outer mitochondrial membrane permeability for ADP.
Journal: FEBS letters 20011207
Title: Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency.
Journal: Lancet (London, England) 20010929
Title: Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies.
Journal: Archives of disease in childhood. Fetal and neonatal edition 20010901
Title: A polymeric microfluidic chip for CE/MS determination of small molecules.
Journal: Analytical chemistry 20010501
Title: Errors caused by the use of D,L-octanoylcarnitine for blood-spot calibrators.
Journal: Clinical chemistry 20010401
Title: Different sensitivity of rabbit heart and skeletal muscle to endotoxin-induced impairment of mitochondrial function.
Journal: European journal of biochemistry 20010301
