Andresen B - Search Results

1

Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiency.

Merinero B, Pascual Pascual SI, Pérez-Cerdá C, Gangoiti J, Castro M, Garcia MJ, Pascual Castroviejo I, Vianey-Saban C, Andresen B, Gregersen N, Ugarte M. Merinero B, et al. Among authors: andresen b. J Inherit Metab Dis. 1999 Oct;22(7):802-10. doi: 10.1023/a:1005553907216. J Inherit Metab Dis. 1999. PMID: 10518280

2

The mutational spectrum in very long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Vianey-Saban C, Bross P, Divry P, Roe CR, Nada MA, Knudsen I, Gregersen N. Andresen BS, et al. J Inherit Metab Dis. 1996;19(2):169-72. doi: 10.1007/BF01799421. J Inherit Metab Dis. 1996. PMID: 8739957 No abstract available.

3

DNA-based prenatal diagnosis for very-long-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Olpin S, Kvittingen EA, Augoustides-Savvopoulou P, Lindhout D, Halley DJ, Vianey-Saban C, Wanders RJ, Ijlst L, Schroeder LD, Bolund L, Gregersen N. Andresen BS, et al. J Inherit Metab Dis. 1999 May;22(3):281-5. doi: 10.1023/a:1005558828223. J Inherit Metab Dis. 1999. PMID: 10384387 No abstract available.

4

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. 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

5

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: andresen bs. 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

6

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.

7

Molecular diagnosis and characterization of medium-chain acyl-CoA dehydrogenase deficiency.

Andresen BS, Bross P, Jensen TG, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N. Andresen BS, et al. Scand J Clin Lab Invest Suppl. 1995;220:9-25. Scand J Clin Lab Invest Suppl. 1995. PMID: 7652482 Review.

8

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA.

Andresen BS, Bross P, Knudsen I, Winter V, Kølvraa S, Bolund L, Gregersen N. Andresen BS, et al. J Inherit Metab Dis. 1994;17(3):275-8. doi: 10.1007/BF00711806. J Inherit Metab Dis. 1994. PMID: 7807932 No abstract available.

9

Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele.

Gregersen N, Winter V, Lyonnet S, Saudubray JM, Wendel U, Jensen TG, Andresen BS, Kølvraa S, Lehnert W, Bolund L, et al. Gregersen N, et al. Among authors: andresen bs. J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614. J Inherit Metab Dis. 1994. PMID: 7967471

10

Cloning and characterization of human very-long-chain acyl-CoA dehydrogenase cDNA, chromosomal assignment of the gene and identification in four patients of nine different mutations within the VLCAD gene.

Andresen BS, Bross P, Vianey-Saban C, Divry P, Zabot MT, Roe CR, Nada MA, Byskov A, Kruse TA, Neve S, Kristiansen K, Knudsen I, Corydon MJ, Gregersen N. Andresen BS, et al. Hum Mol Genet. 1996 Apr;5(4):461-72. doi: 10.1093/hmg/5.4.461. Hum Mol Genet. 1996. PMID: 8845838

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