Olsen RKJ - Search Results

1

Bioenergetic and Proteomic Profiling of Immune Cells in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients: An Exploratory Study.

Fernandez-Guerra P, Gonzalez-Ebsen AC, Boonen SE, Courraud J, Gregersen N, Mehlsen J, Palmfeldt J, Olsen RKJ, Brinth LS. Fernandez-Guerra P, et al. Among authors: olsen rkj. Biomolecules. 2021 Jun 29;11(7):961. doi: 10.3390/biom11070961. Biomolecules. 2021. PMID: 34209852 Free PMC article.

2

Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Olsen RK, et al. Hum Mutat. 2003 Jul;22(1):12-23. doi: 10.1002/humu.10226. Hum Mutat. 2003. PMID: 12815589

3

DNA-based prenatal diagnosis for severe and variant forms of multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Andresen BS, Christensen E, Mandel H, Skovby F, Nielsen JP, Knudsen I, Vianey-Saban C, Simonsen H, Gregersen N. Olsen RK, et al. Prenat Diagn. 2005 Jan;25(1):60-4. doi: 10.1002/pd.983. Prenat Diagn. 2005. PMID: 15662686

4

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

Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, Andersen O, Oldfors A, Holme E, Gregersen N, Turnbull DM, Morris AA. Olsen RK, et al. Brain. 2007 Aug;130(Pt 8):2045-54. doi: 10.1093/brain/awm135. Epub 2007 Jun 20. Brain. 2007. PMID: 17584774

5

Mitochondrial fatty acid oxidation defects--remaining challenges.

Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P. Gregersen N, et al. J Inherit Metab Dis. 2008 Oct;31(5):643-57. doi: 10.1007/s10545-008-0990-y. Epub 2008 Oct 7. J Inherit Metab Dis. 2008. PMID: 18836889

6

Disease mechanisms and protein structures in fatty acid oxidation defects.

Gregersen N, Olsen RK. Gregersen N, et al. J Inherit Metab Dis. 2010 Oct;33(5):547-53. doi: 10.1007/s10545-010-9046-1. Epub 2010 Feb 12. J Inherit Metab Dis. 2010. PMID: 20151199

7

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

Cornelius N, Frerman FE, Corydon TJ, Palmfeldt J, Bross P, Gregersen N, Olsen RK. Cornelius N, et al. Hum Mol Genet. 2012 Aug 1;21(15):3435-48. doi: 10.1093/hmg/dds175. Epub 2012 May 18. Hum Mol Genet. 2012. PMID: 22611163

8

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865

9

The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.

Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. Olsen RK, et al. Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123825

10

Proteomic investigation of cultivated fibroblasts from patients with mitochondrial short-chain acyl-CoA dehydrogenase deficiency.

Edhager AV, Stenbroen V, Nielsen NS, Bross P, Olsen RKJ, Gregersen N, Palmfeldt J. Edhager AV, et al. Among authors: olsen rkj. Mol Genet Metab. 2014 Mar;111(3):360-368. doi: 10.1016/j.ymgme.2014.01.007. Epub 2014 Jan 24. Mol Genet Metab. 2014. PMID: 24485985

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