Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches

<i>Coot</i>: model-building tools for molecular graphics

Paul Emsley, Kevin Cowtan · Acta Crystallographica Section D Biological Crystallography · 2004 · 31K citations · Full text

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 · 300 citations · Full text

Genetic Diseases, Disease Phenotype, Genetic Determinant +10

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 · 243 citations · Full text

Aldo-keto Reductase, Molecular Biology, Chemical Biology +18

Clear relationship betweenETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, Brage Storstein Andresen, Ernst Christensen et al. · Human Mutation · 2003 · 233 citations

Residual Enzyme Activity, Developmental Biology, Autoimmune Disease +13

Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients.

Toshifumi Aoyama, Masayoshi Souri, S. Ushikubo et al. · Journal of Clinical Investigation · 1995 · 161 citations · Full text

Molecular Biology, Pathology, Vlcad Deficiency +16