Christensen E - Search Results

1

Reinvestigation of trihydroxycholestanoic acidemia reveals a peroxisome biogenesis disorder.

Gootjes J, Skovby F, Christensen E, Wanders RJ, Ferdinandusse S. Gootjes J, et al. Among authors: christensen e. Neurology. 2004 Jun 8;62(11):2077-81. doi: 10.1212/01.wnl.0000127576.26352.d1. Neurology. 2004. PMID: 15184617

2

Heterogeneity in di/trihydroxycholestanoic acidaemia.

ten Brink HJ, Wanders RJ, Christensen E, Brandt NJ, Jakobs C. ten Brink HJ, et al. Among authors: christensen e. Ann Clin Biochem. 1994 Mar;31 ( Pt 2):195-7. doi: 10.1177/000456329403100217. Ann Clin Biochem. 1994. PMID: 8060102 No abstract available.

3

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: christensen e. 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.

4

A new peroxisomal beta-oxidation disorder in twin neonates: defective oxidation of both cerotic and pristanic acids.

Christensen E, Pedersen SA, Leth H, Jakobs C, Schutgens RB, Wanders RJ. Christensen E, et al. J Inherit Metab Dis. 1997 Sep;20(5):658-64. doi: 10.1023/a:1005318308422. J Inherit Metab Dis. 1997. PMID: 9323560

5

Diagnosis of Zellweger syndrome by analysis of very long-chain fatty acids in stored blood spots collected at neonatal screening.

Jakobs C, van den Heuvel CM, Stellaard F, Largillière C, Skovby F, Christensen E. Jakobs C, et al. Among authors: christensen e. J Inherit Metab Dis. 1993;16(1):63-6. doi: 10.1007/BF00711316. J Inherit Metab Dis. 1993. PMID: 8487504 No abstract available.

6

A new peroxisomal disorder: di- and trihydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency.

Christensen E, Van Eldere J, Brandt NJ, Schutgens RB, Wanders RJ, Eyssen HJ. Christensen E, et al. J Inherit Metab Dis. 1990;13(3):363-6. doi: 10.1007/BF01799396. J Inherit Metab Dis. 1990. PMID: 2122101 No abstract available.

7

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: christensen e. 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.

8

Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase.

Christensen M, Duno M, Lund AM, Skovby F, Christensen E. Christensen M, et al. Among authors: christensen e. J Inherit Metab Dis. 2007 Apr;30(2):248-55. doi: 10.1007/s10545-007-0396-2. Epub 2007 Mar 1. J Inherit Metab Dis. 2007. PMID: 17334708

9

[Diagnosis and acute treatment of inborn metabolic diseases in infants].

Lund AM, Christensen E, Skovby F. Lund AM, et al. Among authors: christensen e. Ugeskr Laeger. 2002 Nov 25;164(48):5613-9. Ugeskr Laeger. 2002. PMID: 12523004 Review. Danish.

10

Clinical and biochemical monitoring of patients with fatty acid oxidation disorders.

Lund AM, Skovby F, Vestergaard H, Christensen M, Christensen E. Lund AM, et al. Among authors: christensen m, christensen e. J Inherit Metab Dis. 2010 Oct;33(5):495-500. doi: 10.1007/s10545-009-9000-2. Epub 2010 Jan 12. J Inherit Metab Dis. 2010. PMID: 20066495 Review.

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