MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency

Tandem Mass Spectrometric Analysis for Amino, Organic, and Fatty Acid Disorders in Newborn Dried Blood Spots

Thomas H. Zytkovicz, Eileen F Fitzgerald, Deborah Marsden et al. · Clinical Chemistry · 2001 · 496 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +13

Arrhythmias and Conduction Defects as Presenting Symptoms of Fatty Acid Oxidation Disorders in Children

Damien Bonnet, Delphine Martin, Pascale de Lonlay et al. · Circulation · 1999 · 308 citations · Full text

Medicine, Cardiology, Pediatrics +17

Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency

Brage Storstein Andresen, S. E. Olpin, Ben J. H. M. Poorthuis et al. · The American Journal of Human Genetics · 1999 · 302 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Electrospray Tandem Mass Spectrometry for Analysis of Acylcarnitines in Dried Postmortem Blood Specimens Collected at Autopsy from Infants with Unexplained Cause of Death

Donald H. Chace, James C. DiPerna, Brenda Mitchell et al. · Clinical Chemistry · 2001 · 247 citations

Medicine, Biochemistry, Human Nutrition +14

Crystal structures of medium-chain acyl-CoA dehydrogenase from pig liver mitochondria with and without substrate.

J J Kim, Mei Wang, Rosemary Paschke · Proceedings of the National Academy of Sciences · 1993 · 244 citations

Life Sciences, Biochemistry, Molecular Biology +17