Andresen BS - Search Results

1

An intronic variation in SLC52A1 causes exon skipping and transient riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency.

Mosegaard S, Bruun GH, Flyvbjerg KF, Bliksrud YT, Gregersen N, Dembic M, Annexstad E, Tangeraas T, Olsen RKJ, Andresen BS. Mosegaard S, et al. Among authors: andresen bs. Mol Genet Metab. 2017 Dec;122(4):182-188. doi: 10.1016/j.ymgme.2017.10.014. Epub 2017 Nov 2. Mol Genet Metab. 2017. PMID: 29122468

2

Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene.

Tanaka K, Yokota I, Coates PM, Strauss AW, Kelly DP, Zhang Z, Gregersen N, Andresen BS, Matsubara Y, Curtis D, et al. Tanaka K, et al. Among authors: andresen bs. Hum Mutat. 1992;1(4):271-9. doi: 10.1002/humu.1380010402. Hum Mutat. 1992. PMID: 1363805 Review.

3

Expression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cells.

Jensen TG, Andresen BS, Bross P, Jensen UB, Holme E, Kølvraa S, Gregersen N, Bolund L. Jensen TG, et al. Among authors: andresen bs. Biochim Biophys Acta. 1992 Oct 13;1180(1):65-72. doi: 10.1016/0925-4439(92)90028-l. Biochim Biophys Acta. 1992. PMID: 1382617

4

Two novel nonradioactive polymerase chain reaction-based assays of dried blood spots, genomic DNA, or whole cells for fast, reliable detection of Z and S mutations in the alpha 1-antitrypsin gene.

Andresen BS, Knudsen I, Jensen PK, Rasmussen K, Gregersen N. Andresen BS, et al. Clin Chem. 1992 Oct;38(10):2100-7. Clin Chem. 1992. PMID: 1394999

5

Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency: a diagnostic approach.

Gregersen N, Winter V, Kølvraa S, Andresen BS, Bross P, Blakemore A, Curtis D, Bolund L. Gregersen N, et al. Among authors: andresen bs. Prog Clin Biol Res. 1992;375:441-52. Prog Clin Biol Res. 1992. PMID: 1438387 Review. No abstract available.

6

[Medium chain acyl-CoA dehydrogenase (MCAD) deficiency: a life-threatening defect of fatty acid oxidation].

Gregersen N, Winter V, Andresen BS, Kølvraa S, Christensen E, Petersen BN, Bolund LA. Gregersen N, et al. Among authors: andresen bs. Ugeskr Laeger. 1992 Feb 17;154(8):483-8. Ugeskr Laeger. 1992. PMID: 1539377 Review. Danish.

7

The most common mutation causing medium-chain acyl-CoA dehydrogenase deficiency is strongly associated with a particular haplotype in the region of the gene.

Kølvraa S, Gregersen N, Blakemore AI, Schneidermann AK, Winter V, Andresen BS, Curtis D, Engel PC, Pricille D, Rhead W, et al. Kølvraa S, et al. Among authors: andresen bs. Hum Genet. 1991 Aug;87(4):425-8. doi: 10.1007/BF00197161. Hum Genet. 1991. PMID: 1679031

8

Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene.

Gregersen N, Blakemore AI, Winter V, Andresen B, Kølvraa S, Bolund L, Curtis D, Engel PC. Gregersen N, et al. Clin Chim Acta. 1991 Nov 9;203(1):23-34. doi: 10.1016/0009-8981(91)90153-4. Clin Chim Acta. 1991. PMID: 1769118

9

Characterization of a disease-causing Lys329 to Glu mutation in 16 patients with medium-chain acyl-CoA dehydrogenase deficiency.

Gregersen N, Andresen BS, Bross P, Winter V, Rüdiger N, Engst S, Ghisla S, Christensen E, Kelly D, Strauss AW, et al. Gregersen N, et al. Among authors: andresen bs. J Inherit Metab Dis. 1991;14(3):314-6. doi: 10.1007/BF01811691. J Inherit Metab Dis. 1991. PMID: 1770781 No abstract available.

10

Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli.

Gregersen N, Andresen BS, Bross P, Winter V, Rüdiger N, Engst S, Christensen E, Kelly D, Strauss AW, Kølvraa S, et al. Gregersen N, et al. Among authors: andresen bs. Hum Genet. 1991 Apr;86(6):545-51. doi: 10.1007/BF00201539. Hum Genet. 1991. PMID: 1902818

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