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The ETFDH c.158A>G variation disrupts the balanced interplay of ESE- and ESS-binding proteins thereby causing missplicing and multiple Acyl-CoA dehydrogenation deficiency.
Olsen RK, Brøner S, Sabaratnam R, Doktor TK, Andersen HS, Bruun GH, Gahrn B, Stenbroen V, Olpin SE, Dobbie A, Gregersen N, Andresen BS. Olsen RK, et al. Among authors: olpin se. Hum Mutat. 2014 Jan;35(1):86-95. doi: 10.1002/humu.22455. Epub 2013 Oct 28. Hum Mutat. 2014. PMID: 24123825
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. 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
Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.
Andresen BS, Olpin S, Poorthuis BJ, Scholte HR, Vianey-Saban C, Wanders R, Ijlst L, Morris A, Pourfarzam M, Bartlett K, Baumgartner ER, deKlerk JB, Schroeder LD, Corydon TJ, Lund H, Winter V, Bross P, Bolund L, Gregersen N. Andresen BS, et al. Am J Hum Genet. 1999 Feb;64(2):479-94. doi: 10.1086/302261. Am J Hum Genet. 1999. PMID: 9973285 Free PMC article.
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.
The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.
O'Reilly L, Bross P, Corydon TJ, Olpin SE, Hansen J, Kenney JM, McCandless SE, Frazier DM, Winter V, Gregersen N, Engel PC, Andresen BS. O'Reilly L, et al. Among authors: olpin se. Eur J Biochem. 2004 Oct;271(20):4053-63. doi: 10.1111/j.1432-1033.2004.04343.x. Eur J Biochem. 2004. PMID: 15479234 Free article.
85 results