Gregersen N - Search Results

1

A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report.

Dessein AF, Fontaine M, Andresen BS, Gregersen N, Brivet M, Rabier D, Napuri-Gouel S, Dobbelaere D, Mention-Mulliez K, Martin-Ponthieu A, Briand G, Millington DS, Vianey-Saban C, Wanders RJ, Vamecq J. Dessein AF, et al. Among authors: gregersen n. Orphanet J Rare Dis. 2010 Oct 5;5:26. doi: 10.1186/1750-1172-5-26. Orphanet J Rare Dis. 2010. PMID: 20923556 Free PMC article.

2

Fluxomic evidence for impaired contribution of short-chain acyl-CoA dehydrogenase to mitochondrial palmitate β-oxidation in symptomatic patients with ACADS gene susceptibility variants.

Dessein AF, Fontaine M, Joncquel-Chevalier Curt M, Briand G, Sechter C, Mention-Mulliez K, Dobbelaere D, Douillard C, Lacour A, Redonnet-Vernhet I, Lamireau D, Barth M, Minot-Myhié MC, Kuster A, de Lonlay P, Gregersen N, Acquaviva C, Vianey-Saban C, Vamecq J. Dessein AF, et al. Among authors: gregersen n. Clin Chim Acta. 2017 Aug;471:101-106. doi: 10.1016/j.cca.2017.05.026. Epub 2017 May 19. Clin Chim Acta. 2017. PMID: 28532786

3

Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.

Gregersen N, Bross P, Andresen BS. Gregersen N, et al. Eur J Biochem. 2004 Feb;271(3):470-82. doi: 10.1046/j.1432-1033.2003.03949.x. Eur J Biochem. 2004. PMID: 14728674 Free article. Review.

4

Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency.

Bross P, Andresen BS, Gregersen N. Bross P, et al. Among authors: gregersen n. Prog Nucleic Acid Res Mol Biol. 1998;58:301-37. doi: 10.1016/s0079-6603(08)60040-9. Prog Nucleic Acid Res Mol Biol. 1998. PMID: 9308370 Review.

5

Homozygosity for a severe novel medium-chain acyl-CoA dehydrogenase (MCAD) mutation IVS3-1G > C that leads to introduction of a premature termination codon by complete missplicing of the MCAD mRNA and is associated with phenotypic diversity ranging from sudden neonatal death to asymptomatic status.

Korman SH, Gutman A, Brooks R, Sinnathamby T, Gregersen N, Andresen BS. Korman SH, et al. Among authors: gregersen n. Mol Genet Metab. 2004 Jun;82(2):121-9. doi: 10.1016/j.ymgme.2004.03.002. Mol Genet Metab. 2004. PMID: 15171999

6

Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.

Madsen PP, Kibaek M, Roca X, Sachidanandam R, Krainer AR, Christensen E, Steiner RD, Gibson KM, Corydon TJ, Knudsen I, Wanders RJ, Ruiter JP, Gregersen N, Andresen BS. Madsen PP, et al. Among authors: gregersen n. Hum Genet. 2006 Feb;118(6):680-90. doi: 10.1007/s00439-005-0070-4. Epub 2005 Nov 30. Hum Genet. 2006. PMID: 16317551

7

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: gregersen n. 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

8

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. J Inherit Metab Dis. 1994;17(2):169-84. doi: 10.1007/BF00711614. J Inherit Metab Dis. 1994. PMID: 7967471

9

Prevalent mutations in fatty acid oxidation disorders: diagnostic considerations.

Gregersen N, Andresen BS, Bross P. Gregersen N, et al. Eur J Pediatr. 2000 Dec;159 Suppl 3:S213-8. doi: 10.1007/pl00014406. Eur J Pediatr. 2000. PMID: 11216903 Review.

10

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood.

Gregersen N, Winter V, Jensen PK, Holmskov A, Kølvraa S, Andresen BS, Christensen E, Bross P, Lundemose JB, Gregersen M. Gregersen N, et al. Among authors: gregersen m. Prenat Diagn. 1995 Jan;15(1):82-6. doi: 10.1002/pd.1970150118. Prenat Diagn. 1995. PMID: 7740006

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