- Possible pathogenic mechanism of propofol infusion syndrome involves coenzyme Q
- Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids
An inherited metabolic disorder presenting as ethylene glycol intoxication in a young adult.
2002) AMERICAN JOURNAL OF FORENSIC MEDICINE AND PATHOLOGY. 23(1). p.96-100 Mark(
- Participation of two members of the very long-chain acyl-CoA synthetase family in bile acid synthesis and recycling.
- Stereochemistry of the peroxisomal branched-chain fatty acid alpha- and beta-oxidation systems in patients suffering from different peroxisomal disorders.
Demonstration of dimethylnonanoyl-CoA thioesterase activity in rat liver peroxisomes followed by purification and molecular cloning of the thioesterase involved.
2002) BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 290(2). p.629-634 Mark(
- Dominant inheritance of sialuria, an inborn error of feedback inhibition.
Identification of pristanal dehydrogenase activity in peroxisomes: Conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes.
2001) BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS. 283(3). p.674-679 Mark(
- A novel disorder in a newborn caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency
- A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency.