Rikke Katrine Jentoft Olsen

Summary

Affiliation: Aarhus University Hospital
Country: Denmark

Publications

  1. Olsen R, Dobrowolski S, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, et al. High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene. J Inherit Metab Dis. 2010;33:247-60 pubmed publisher
    ..Based on estimates of the expected disease incidence, we discuss the diagnostic accuracy of MS/MS-based newborn screening to identify VLCADD in Denmark. ..
  2. Olsen R, Cornelius N, Gregersen N. Genetic and cellular modifiers of oxidative stress: what can we learn from fatty acid oxidation defects?. Mol Genet Metab. 2013;110 Suppl:S31-9 pubmed publisher
  3. request reprint
    Olsen R, Olpin S, Andresen B, Miedzybrodzka Z, Pourfarzam M, Merinero B, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045-54 pubmed
    ..This is the largest collection of riboflavin-responsive MADD patients ever reported, and the first demonstration of the molecular genetic basis for the disorder. ..