Olsen RK - Search Results

1

Linking telomere loss and mitochondrial dysfunction in chronic disease.

Gonzales-Ebsen AC, Gregersen N, Olsen RK. Gonzales-Ebsen AC, et al. Among authors: olsen rk. Front Biosci (Landmark Ed). 2017 Jan 1;22(1):117-127. doi: 10.2741/4475. Front Biosci (Landmark Ed). 2017. PMID: 27814605 Free article. Review.

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

Lipid-storage myopathy and respiratory insufficiency due to ETFQO mutations in a patient with late-onset multiple acyl-CoA dehydrogenation deficiency.

Olsen RK, Pourfarzam M, Morris AA, Dias RC, Knudsen I, Andresen BS, Gregersen N, Olpin SE. Olsen RK, et al. J Inherit Metab Dis. 2004;27(5):671-8. doi: 10.1023/b:boli.0000042986.10291.e9. J Inherit Metab Dis. 2004. PMID: 15669683

5

Biochemical, clinical and molecular findings in LCHAD and general mitochondrial trifunctional protein deficiency.

Olpin SE, Clark S, Andresen BS, Bischoff C, Olsen RK, Gregersen N, Chakrapani A, Downing M, Manning NJ, Sharrard M, Bonham JR, Muntoni F, Turnbull DN, Pourfarzam M. Olpin SE, et al. Among authors: olsen rk. J Inherit Metab Dis. 2005;28(4):533-44. doi: 10.1007/s10545-005-0533-8. J Inherit Metab Dis. 2005. PMID: 15902556

6

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

7

Mitochondrial fatty acid oxidation defects--remaining challenges.

Gregersen N, Andresen BS, Pedersen CB, Olsen RK, Corydon TJ, Bross P. Gregersen N, et al. Among authors: olsen rk. 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

8

Disease mechanisms and protein structures in fatty acid oxidation defects.

Gregersen N, Olsen RK. Gregersen N, et al. Among authors: olsen rk. 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

9

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. Among authors: olsen rk. 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

10

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. Among authors: olsen rk. 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

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