Brage Storstein Andresen

ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency

Rikke Katrine Jentoft Olsen, S. E. Olpin, Brage Storstein Andresen et al. · Brain · 2007 · 326 citations

Metabolic Disorder, Genetics, Molecular Biology +25

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

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

Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Mutations Identified by MS/MS-Based Prospective Screening of Newborns Differ from Those Observed in Patients with Clinical Symptoms: Identification and Characterization of a New, Prevalent Mutation That Results in Mild MCAD Deficiency*

Brage Storstein Andresen, Steve F. Dobrowolski, Linda P. O’Reilly et al. · The American Journal of Human Genetics · 2001 · 232 citations · Full text

Clinical Symptoms, Mendelian Disorder, Prevalent Mutation +14

Splicing factor 1 modulates dietary restriction and TORC1 pathway longevity in C. elegans

Caroline Heintz, Thomas Koed Doktor, Anne Lanjuin et al. · Nature · 2016 · 210 citations · Full text

Biology, Lifespan Extension, Transcriptional Regulation +12