Simonsen H - Search Results

1

Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metabolism.

Andresen BS, Christensen E, Corydon TJ, Bross P, Pilgaard B, Wanders RJ, Ruiter JP, Simonsen H, Winter V, Knudsen I, Schroeder LD, Gregersen N, Skovby F. Andresen BS, et al. Among authors: simonsen h. Am J Hum Genet. 2000 Nov;67(5):1095-103. doi: 10.1086/303105. Epub 2000 Sep 29. Am J Hum Genet. 2000. PMID: 11013134 Free PMC article.

2

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: simonsen h. Prenat Diagn. 2005 Jan;25(1):60-4. doi: 10.1002/pd.983. Prenat Diagn. 2005. PMID: 15662686

3

Expression of short-chain acyl-CoA dehydrogenase (SCAD) proteins in the liver of SCAD deficient mice after hydrodynamic gene transfer.

Holm DA, Dagnaes-Hansen F, Simonsen H, Gregersen N, Bolund L, Jensen TG, Corydon TJ. Holm DA, et al. Among authors: simonsen h. Mol Genet Metab. 2003 Apr;78(4):250-8. doi: 10.1016/s1096-7192(03)00038-6. Mol Genet Metab. 2003. PMID: 12706376

4

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: simonsen h. 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

5

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: simonsen h. 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

6

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase.

Ravn K, Chloupkova M, Christensen E, Brandt NJ, Simonsen H, Kraus JP, Nielsen IM, Skovby F, Schwartz M. Ravn K, et al. Among authors: simonsen h. Am J Hum Genet. 2000 Jul;67(1):203-6. doi: 10.1086/302971. Epub 2000 May 16. Am J Hum Genet. 2000. PMID: 10820128 Free PMC article.

7

Hypoglycaemia and elevated urine ethylmalonic acid in a child homozygous for the short-chain acyl-CoA dehydrogenase 625G > A gene variation.

Birkebaek NH, Simonsen H, Gregersen N. Birkebaek NH, et al. Among authors: simonsen h. Acta Paediatr. 2002;91(4):480-2. doi: 10.1080/080352502317371751. Acta Paediatr. 2002. PMID: 12061367

8

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: simonsen h. 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

9

Design of a pilot study to evaluate tandem mass spectrometry for neonatal screening.

Simonsen H, Jensen UG, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Simonsen H, et al. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:166-9. Southeast Asian J Trop Med Public Health. 1999. PMID: 11400760

10

Biochemical screening of 504,049 newborns in Denmark, the Faroe Islands and Greenland--experience and development of a routine program for expanded newborn screening.

Lund AM, Hougaard DM, Simonsen H, Andresen BS, Christensen M, Dunø M, Skogstrand K, Olsen RK, Jensen UG, Cohen A, Larsen N, Saugmann-Jensen P, Gregersen N, Brandt NJ, Christensen E, Skovby F, Nørgaard-Pedersen B. Lund AM, et al. Among authors: simonsen h. Mol Genet Metab. 2012 Nov;107(3):281-93. doi: 10.1016/j.ymgme.2012.06.006. Epub 2012 Jun 21. Mol Genet Metab. 2012. PMID: 22795865

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