van Maldegem BT et al. |
Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency. |
2010 |
Pediatr. Res. |
pmid:19952864
|
Tyni T et al. |
Analysis of mitochondrial fatty acid oxidation intermediates by tandem mass spectrometry from intact mitochondria prepared from homogenates of cultured fibroblasts, skeletal muscle cells, and fresh muscle. |
2002 |
Pediatr. Res. |
pmid:12084849
|
Koeberl DD et al. |
Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening. |
2003 |
Pediatr. Res. |
pmid:12736383
|
Hack A et al. |
Monitoring of ketogenic diet for carnitine metabolites by subcutaneous microdialysis. |
2006 |
Pediatr. Res. |
pmid:16690958
|
Gallant NM et al. |
Biochemical, molecular, and clinical characteristics of children with short chain acyl-CoA dehydrogenase deficiency detected by newborn screening in California. |
2012 |
Mol. Genet. Metab. |
pmid:22424739
|
Nagan N et al. |
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. |
2003 |
Mol. Genet. Metab. |
pmid:12706374
|
Forni S et al. |
Rapid determination of C4-acylcarnitine and C5-acylcarnitine isomers in plasma and dried blood spots by UPLC-MS/MS as a second tier test following flow-injection MS/MS acylcarnitine profile analysis. |
2010 |
Mol. Genet. Metab. |
pmid:20591710
|
van Maldegem BT et al. |
Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency. |
2006 |
JAMA |
pmid:16926354
|
Alexandre-Gouabau MC et al. |
Maternal and cord blood LC-HRMS metabolomics reveal alterations in energy and polyamine metabolism, and oxidative stress in very-low birth weight infants. |
2013 |
J. Proteome Res. |
pmid:23527880
|
Merinero B et al. |
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathy. |
2006 |
J. Inherit. Metab. Dis. |
pmid:16906473
|