Niels Gregersen

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

Life Sciences, Genetics, Molecular Genetics +17

Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C-->T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-->A, together conferring susceptibility to ethylmalonic aciduria

Niels Gregersen · Human Molecular Genetics · 1998 · 120 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Acyl-CoA-binding protein/diazepam-binding inhibitor gene and pseudogenes

Susanne Mandrup, René Hummel, Stig Ravn et al. · Journal of Molecular Biology · 1992 · 113 citations

Medicine, Molecular Biology, Pharmacology +4

Molecular mechanisms of riboflavin responsiveness in patients with ETF-QO variations and multiple acyl-CoA dehydrogenation deficiency

Nanna Cornelius, Frank E. Frerman, Thomas J. Corydon et al. · Human Molecular Genetics · 2012 · 101 citations · Full text

Life Sciences, Biochemistry, Genetics +15

Rare Disorders of Metabolism with Elevated Butyryl- and Isobutyryl-Carnitine Detected by Tandem Mass Spectrometry Newborn Screening

Dwight D. Koeberl, Sarah P. Young, Niels Gregersen et al. · Pediatric Research · 2003 · 89 citations

Medicine, Biochemistry, Pediatrics +11