Tonin AM et al. |
Disruption of redox homeostasis in cerebral cortex of developing rats by acylcarnitines accumulating in medium-chain acyl-CoA dehydrogenase deficiency. |
2012 |
Int. J. Dev. Neurosci. |
pmid:22472139
|
Larsen S et al. |
Increased mitochondrial substrate sensitivity in skeletal muscle of patients with type 2 diabetes. |
2011 |
Diabetologia |
pmid:21424396
|
Smith EH et al. |
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. |
2010 |
Mol. Genet. Metab. |
pmid:20434380
|
Kraunsøe R et al. |
Mitochondrial respiration in subcutaneous and visceral adipose tissue from patients with morbid obesity. |
2010 |
J. Physiol. (Lond.) |
pmid:20421291
|
Khalid JM et al. |
Relationship of octanoylcarnitine concentrations to age at sampling in unaffected newborns screened for medium-chain acyl-CoA dehydrogenase deficiency. |
2010 |
Clin. Chem. |
pmid:20413428
|
De Jesús VR et al. |
Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry. |
2010 |
Clin. Chim. Acta |
pmid:20122909
|
Schönfeld P et al. |
Mitochondrial fatty acid oxidation and oxidative stress: lack of reverse electron transfer-associated production of reactive oxygen species. |
2010 Jun-Jul |
Biochim. Biophys. Acta |
pmid:20085746
|
Arnold GL et al. |
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State. |
2010 |
Mol. Genet. Metab. |
pmid:20036593
|
Maier EM et al. |
Dissection of biochemical borderline phenotypes in carriers and genetic variants of medium-chain acyl-CoA dehyrogenase deficiency: implications for newborn screening [corrected]. |
2009 |
Clin. Genet. |
pmid:19780764
|
Squire RS |
Synthesis and purification of radioactive fatty acylcarnitines of high specific activity. |
1991 |
Anal. Biochem. |
pmid:1952050
|
Bhuiyan AK and Pande SV |
One-step facile synthesis of radioactive acyl-CoA and acylcarnitines using rat liver outer mitochondrial membrane as the enzyme source. |
1991 |
Biochem. Soc. Trans. |
pmid:1889559
|
Hsu HW et al. |
Spectrum of medium-chain acyl-CoA dehydrogenase deficiency detected by newborn screening. |
2008 |
Pediatrics |
pmid:18450854
|
Marzo A et al. |
Protein binding of L-carnitine family components. |
1991 |
Eur J Drug Metab Pharmacokinet |
pmid:1820909
|
Muci MR and Gnoni GV |
Short-term effects of triiodothyronine on exogenous and de novo synthesized fatty acids in rat hepatocytes. |
1991 |
Biochem. Int. |
pmid:1804101
|
Rhead WJ |
Newborn screening for medium-chain acyl-CoA dehydrogenase deficiency: a global perspective. |
2006 Apr-Jun |
J. Inherit. Metab. Dis. |
pmid:16763904
|
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
|
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
|
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
|
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
|
Farquharson J et al. |
Direct gas chromatographic assay of urinary medium-chain fatty acylcarnitines by their thermal decomposition. |
1992 |
Clin. Chim. Acta |
pmid:1576748
|