Gregersen N - Search Results

1

High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.

Olsen RK, Dobrowolski SF, Kjeldsen M, Hougaard D, Simonsen H, Gregersen N, Andresen BS. Olsen RK, et al. Among authors: gregersen n. J Inherit Metab Dis. 2010 Jun;33(3):247-60. doi: 10.1007/s10545-010-9101-y. Epub 2010 May 18. J Inherit Metab Dis. 2010. PMID: 20480395

2

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

3

MCAD deficiency in Denmark.

Andresen BS, Lund AM, Hougaard DM, Christensen E, Gahrn B, Christensen M, Bross P, Vested A, Simonsen H, Skogstrand K, Olpin S, Brandt NJ, Skovby F, Nørgaard-Pedersen B, Gregersen N. Andresen BS, et al. Among authors: gregersen n. Mol Genet Metab. 2012 Jun;106(2):175-88. doi: 10.1016/j.ymgme.2012.03.018. Epub 2012 Apr 4. Mol Genet Metab. 2012. PMID: 22542437

4

Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanisms.

Nochi Z, Olsen RKJ, Gregersen N. Nochi Z, et al. Among authors: gregersen n. J Inherit Metab Dis. 2017 Sep;40(5):641-655. doi: 10.1007/s10545-017-0047-1. Epub 2017 May 17. J Inherit Metab Dis. 2017. PMID: 28516284 Review.

5

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders.

Gregersen N, Bross P, Jørgensen MM, Corydon TJ, Andresen BS. Gregersen N, et al. J Inherit Metab Dis. 2000 Jul;23(5):441-7. doi: 10.1023/a:1005663728291. J Inherit Metab Dis. 2000. PMID: 10947197 Review.

6

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N, Bross P, Andresen BS. Gregersen N, et al. Eur J Biochem. 2004 Feb;271(3):470-82. doi: 10.1046/j.1432-1033.2003.03949.x. Eur J Biochem. 2004. PMID: 14728674 Free article. Review.

7

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. Among authors: gregersen n. Prenat Diagn. 2005 Jan;25(1):60-4. doi: 10.1002/pd.983. Prenat Diagn. 2005. PMID: 15662686

8

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS. Madsen PP, et al. Among authors: gregersen n. Hum Genet. 2006 Feb;118(6):680-90. doi: 10.1007/s00439-005-0070-4. Epub 2005 Nov 30. Hum Genet. 2006. PMID: 16317551

9

Variations in IBD (ACAD8) in children with elevated C4-carnitine detected by tandem mass spectrometry newborn screening.

Pedersen CB, Bischoff C, Christensen E, Simonsen H, Lund AM, Young SP, Koeberl DD, Millington DS, Roe CR, Roe DS, Wanders RJ, Ruiter JP, Keppen LD, Stein Q, Knudsen I, Gregersen N, Andresen BS. Pedersen CB, et al. Among authors: gregersen n. Pediatr Res. 2006 Sep;60(3):315-20. doi: 10.1203/01.pdr.0000233085.72522.04. Epub 2006 Jul 20. Pediatr Res. 2006. PMID: 16857760

10

Antioxidant dysfunction: potential risk for neurotoxicity in ethylmalonic aciduria.

Pedersen CB, Zolkipli Z, Vang S, Palmfeldt J, Kjeldsen M, Stenbroen V, Schmidt SP, Wanders RJ, Ruiter JP, Wibrand F, Tein I, Gregersen N. Pedersen CB, et al. Among authors: gregersen n. J Inherit Metab Dis. 2010 Jun;33(3):211-22. doi: 10.1007/s10545-010-9086-6. Epub 2010 May 5. J Inherit Metab Dis. 2010. PMID: 20443061

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

430 results

Search Page

Filters