de Assis DR et al. |
Na+, K+ ATPase activity is markedly reduced by cis-4-decenoic acid in synaptic plasma membranes from cerebral cortex of rats. |
2006 |
Exp. Neurol. |
pmid:16203000
|
Baumgartner C and Baumgartner D |
Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism. |
2006 |
J Biomol Screen |
pmid:16314408
|
Ensenauer R et al. |
Genotypic differences of MCAD deficiency in the Asian population: novel genotype and clinical symptoms preceding newborn screening notification. |
2005 May-Jun |
Genet. Med. |
pmid:15915086
|
Jogl G et al. |
Crystal structure of mouse carnitine octanoyltransferase and molecular determinants of substrate selectivity. |
2005 |
J. Biol. Chem. |
pmid:15492013
|
Lehotay DC et al. |
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype? |
2004 |
J. Inherit. Metab. Dis. |
pmid:14970748
|
Pourfarzam M et al. |
Neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency. |
2001 |
Lancet |
pmid:11589939
|
Carpenter K et al. |
Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275 000 babies. |
2001 |
Arch. Dis. Child. Fetal Neonatal Ed. |
pmid:11517203
|
Chace DH et al. |
Errors caused by the use of D,L-octanoylcarnitine for blood-spot calibrators. |
2001 |
Clin. Chem. |
pmid:11274033
|
Kameoka J et al. |
A polymeric microfluidic chip for CE/MS determination of small molecules. |
2001 |
Anal. Chem. |
pmid:11354473
|
Trumbeckaite S et al. |
Different sensitivity of rabbit heart and skeletal muscle to endotoxin-induced impairment of mitochondrial function. |
2001 |
Eur. J. Biochem. |
pmid:11231295
|
Toleikis A et al. |
Relevance of fatty acid oxidation in regulation of the outer mitochondrial membrane permeability for ADP. |
2001 |
FEBS Lett. |
pmid:11741597
|
Mroczkowska JE et al. |
Blood-brain barrier controls carnitine level in the brain: a study on a model system with RBE4 cells. |
2000 |
Biochem. Biophys. Res. Commun. |
pmid:10623637
|
Clayton PT et al. |
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. |
1998 |
Arch. Dis. Child. |
pmid:9797589
|
Zangar RC and Novak RF |
Effects of fatty acids and ketone bodies on cytochromes P450 2B, 4A, and 2E1 expression in primary cultured rat hepatocytes. |
1997 |
Arch. Biochem. Biophys. |
pmid:9016816
|
Chace DH et al. |
Rapid diagnosis of MCAD deficiency: quantitative analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. |
1997 |
Clin. Chem. |
pmid:9365395
|
Ziadeh R et al. |
Medium chain acyl-CoA dehydrogenase deficiency in Pennsylvania: neonatal screening shows high incidence and unexpected mutation frequencies. |
1995 |
Pediatr. Res. |
pmid:7603790
|
Schmidt-Sommerfeld E et al. |
Detection of inborn errors of fatty acid oxidation from acylcarnitine analysis of plasma and blood spots with the radioisotopic exchange-high-performance liquid chromatographic method. |
1993 |
J. Pediatr. |
pmid:8496747
|
Van Hove JL et al. |
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. |
1993 |
Am. J. Hum. Genet. |
pmid:8488845
|
Minkler PE and Hoppel CL |
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography. |
1993 |
Anal. Biochem. |
pmid:8214594
|
Schmidt-Sommerfeld E et al. |
Urinary medium-chain acylcarnitines in medium-chain acyl-CoA dehydrogenase deficiency, medium-chain triglyceride feeding and valproic acid therapy: sensitivity and specificity of the radioisotopic exchange/high performance liquid chromatography method. |
1992 |
Pediatr. Res. |
pmid:1635814
|