Olsen RK - Search Results

1

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

2

Late-onset form of beta-electron transfer flavoprotein deficiency.

Curcoy A, Olsen RK, Ribes A, Trenchs V, Vilaseca MA, Campistol J, Osorio JH, Andresen BS, Gregersen N. Curcoy A, et al. Among authors: olsen rk. Mol Genet Metab. 2003 Apr;78(4):247-9. doi: 10.1016/s1096-7192(03)00024-6. Mol Genet Metab. 2003. PMID: 12706375

3

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

4

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

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

A comprehensive HADHA c.1528G>C frequency study reveals high prevalence of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency in Poland.

Piekutowska-Abramczuk D, Olsen RK, Wierzba J, Popowska E, Jurkiewicz D, Ciara E, Ołtarzewski M, Gradowska W, Sykut-Cegielska J, Krajewska-Walasek M, Andresen BS, Gregersen N, Pronicka E. Piekutowska-Abramczuk D, et al. Among authors: olsen rk. J Inherit Metab Dis. 2010 Dec;33 Suppl 3:S373-7. doi: 10.1007/s10545-010-9190-7. Epub 2010 Sep 3. J Inherit Metab Dis. 2010. PMID: 20814823

10

Urgent metabolic service improves survival in long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency detected by symptomatic identification and pilot newborn screening.

Sykut-Cegielska J, Gradowska W, Piekutowska-Abramczuk D, Andresen BS, Olsen RK, Ołtarzewski M, Pronicki M, Pajdowska M, Bogdańska A, Jabłońska E, Radomyska B, Kuśmierska K, Krajewska-Walasek M, Gregersen N, Pronicka E. Sykut-Cegielska J, et al. Among authors: olsen rk. J Inherit Metab Dis. 2011 Feb;34(1):185-95. doi: 10.1007/s10545-010-9244-x. Epub 2010 Nov 20. J Inherit Metab Dis. 2011. PMID: 21103935

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