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Screening for defects of branched-chain amino acid metabolism.
Gibson KM, Lee CF, Hoffmann GF. Gibson KM, et al. Eur J Pediatr. 1994;153(7 Suppl 1):S62-7. doi: 10.1007/BF02138780. Eur J Pediatr. 1994. PMID: 7957389 Review.
This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects of branched-chain amino acid metabolism, including isovaleryl-CoA dehydrogenase deficiency, 3-methylcrotonyl-Co …
This report will summarize clinical and metabolite features and enzymological methods available for the diagnosis of the more common defects …
The acyl-CoA dehydrogenation deficiencies. Recent advances in the enzymic characterization and understanding of the metabolic and pathophysiological disturbances in patients with acyl-CoA dehydrogenation deficiencies.
Gregersen N. Gregersen N. Scand J Clin Lab Invest Suppl. 1985;174:1-60. Scand J Clin Lab Invest Suppl. 1985. PMID: 3892650 Review.
The acyl-CoA dehydrogenation process is comprised of three enzymes, i.e. acyl-CoA dehydrogenase (isovaleryl-CoA, isobutyryl-CoA/2-Me-butyryl-CoA, short-chain acyl-CoA, general (medium-chain) acyl-CoA, long-chain acyl-CoA or glutaryl-CoA), electron transfer flavoprotein (ETF) and …
The acyl-CoA dehydrogenation process is comprised of three enzymes, i.e. acyl-CoA dehydrogenase (isovaleryl-CoA, isobutyryl-CoA/2-Me-butyryl …
[Acidemia, isovaleric].
Matsubara Y. Matsubara Y. Ryoikibetsu Shokogun Shirizu. 2001;(33):95-6. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11462734 Review. Japanese. No abstract available.