Kjeldsen M - Search Results

1

Role of common gene variations in the molecular pathogenesis of short-chain acyl-CoA dehydrogenase deficiency.

Corydon MJ, Vockley J, Rinaldo P, Rhead WJ, Kjeldsen M, Winter V, Riggs C, Babovic-Vuksanovic D, Smeitink J, De Jong J, Levy H, Sewell AC, Roe C, Matern D, Dasouki M, Gregersen N. Corydon MJ, et al. Among authors: kjeldsen m. Pediatr Res. 2001 Jan;49(1):18-23. doi: 10.1203/00006450-200101000-00008. Pediatr Res. 2001. PMID: 11134486

2

Complexity of molecular genetics of dyslipidemia in a family highly susceptible to ischemic heart disease.

Jensen HK, Hansen PS, Jensen LG, Kristensen MJ, Klausen IC, Kjeldsen M, Lemming L, Bolund L, Gregersen N, Faergeman O. Jensen HK, et al. Among authors: kjeldsen m. Clin Genet. 1995 Jul;48(1):23-8. doi: 10.1111/j.1399-0004.1995.tb04049.x. Clin Genet. 1995. PMID: 7586640

3

Characterization of wild-type human medium-chain acyl-CoA dehydrogenase (MCAD) and mutant enzymes present in MCAD-deficient patients by two-dimensional gel electrophoresis: evidence for post-translational modification of the enzyme.

Bross P, Jensen TG, Andresen BS, Kjeldsen M, Nandy A, Kølvraa S, Ghisla S, Rasched I, Bolund L, Gregersen N. Bross P, et al. Among authors: kjeldsen m. Biochem Med Metab Biol. 1994 Jun;52(1):36-44. doi: 10.1006/bmmb.1994.1031. Biochem Med Metab Biol. 1994. PMID: 7917465

4

Allele-specific measurement of low-density lipoprotein receptor transcript levels.

Jensen LG, Jensen HK, Heath F, Eiberg H, Kjeldsen M, Faergeman O, Kølvraa S, Bolund L, Gregersen N. Jensen LG, et al. Among authors: kjeldsen m. Hum Mutat. 1996;8(2):126-33. doi: 10.1002/(SICI)1098-1004(1996)8:2<126::AID-HUMU4>3.0.CO;2-9. Hum Mutat. 1996. PMID: 8844210

5

Structural organization of the human short-chain acyl-CoA dehydrogenase gene.

Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, Kølvraa S, Gregersen N. Corydon MJ, et al. Among authors: kjeldsen m. Mamm Genome. 1997 Dec;8(12):922-6. doi: 10.1007/s003359900612. Mamm Genome. 1997. PMID: 9383286

6

A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia.

Hertz JM, Nørgaard Hansen K, Juncker I, Kjeldsen M, Gregersen N. Hertz JM, et al. Among authors: kjeldsen m. Clin Genet. 1998 Mar;53(3):205-9. doi: 10.1111/j.1399-0004.1998.tb02678.x. Clin Genet. 1998. PMID: 9630076

7

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome.

Hertz JM, Juncker I, Persson U, Matthijs G, Schmidtke J, Petersen MB, Kjeldsen M, Gregersen N. Hertz JM, et al. Among authors: kjeldsen m. Hum Mutat. 2001 Aug;18(2):141-8. doi: 10.1002/humu.1163. Hum Mutat. 2001. PMID: 11462238 Free article.

8

The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.

Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N. Pedersen CB, et al. Among authors: kjeldsen m. Hum Genet. 2008 Aug;124(1):43-56. doi: 10.1007/s00439-008-0521-9. Epub 2008 Jun 4. Hum Genet. 2008. PMID: 18523805

9

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: kjeldsen m. 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

10

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: kjeldsen m. 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

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

103 results

Search Page

Filters