Vibeke Winter

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

Role of Common Gene Variations in the Molecular Pathogenesis of Short-Chain Acyl-CoA Dehydrogenase Deficiency

Morten J. Corydon, Jerry Vockley, Piero Rinaldo et al. · Pediatric Research · 2001 · 125 citations · Full text

Aldehyde Dehydrogenase, Molecular Pathogenesis, Genetic Disorder +10

The Molecular Basis of Medium-Chain Acyl-CoA Dehydrogenase (MCAD) Deficiency in Compound Heterozygous Patients: Is There Correlation between Genotype and Phenotype?

Brage Storstein Andresen, Peter Bross, Szabolcs Udvari et al. · Human Molecular Genetics · 1997 · 122 citations · Full text

Ethylmalonic Aciduria Is Associated with an Amino Acid Variant of Short Chain Acyl-Coenzyme A Dehydrogenase

Morten J. Corydon, N. Gregersen, W. Lehnert et al. · Pediatric Research · 1996 · 101 citations · Full text

Aldo-keto Reductase, Aldehyde Dehydrogenase, Biochemistry +10

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene

Niels Gregersen, Alexandra I. F. Blakemore, Vibeke Winter et al. · Clinica Chimica Acta · 1991 · 86 citations

Biochemistry, Genetic Disorder, Dried Blood Spots +9