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  • Brage S Andresen, S F Dobrowolski, +11 authors Niels Gregersen
  • Medicine, Biology
  • American journal of human genetics
  • 2001 (First Publication: 1 June 2001)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most frequently diagnosed mitochondrial beta-oxidation defect, and it is potentially fatal. Eighty percent of patients are homozygous forExpand
  • Niels Gregersen, Brage S Andresen, +4 authors Peter Bross
  • Medicine, Biology
  • Human mutation
  • 2001 (First Publication: 1 September 2001)
  • Mutation analysis of metabolic disorders, such as the fatty acid oxidation defects, offers an additional, and often superior, tool for specific diagnosis compared to traditional enzymatic assays.Expand
  • Rikke Katrine Jentoft Olsen, Brage S Andresen, Ernst Christensen, Peter Bross, Flemming Skovby, Niels Gregersen
  • Biology, Medicine
  • Human mutation
  • 2003 (First Publication: 1 July 2003)
  • Mutations in electron transfer flavoprotein (ETF) and its dehydrogenase (ETFDH) are the molecular basis of multiple acyl-CoA dehydrogenation deficiency (MADD), an autosomal recessively inherited andExpand
  • Brage S Andresen, Péter Bross, +16 authors Niels Gregersen
  • Biology, Medicine
  • Human molecular genetics
  • 1997 (First Publication: 1 May 1997)
  • Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most commonly recognized defect of mitochondrial beta-oxidation. It is potentially fatal, but shows a wide clinical spectrum. The aim ofExpand