Skjeldal OH - Search Results

1

Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene.

Jansen GA, Ofman R, Ferdinandusse S, Ijlst L, Muijsers AO, Skjeldal OH, Stokke O, Jakobs C, Besley GT, Wraith JE, Wanders RJ. Jansen GA, et al. Among authors: skjeldal oh. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

2

Molecular basis of Refsum disease: identification of new mutations in the phytanoyl-CoA hydroxylase cDNA.

Jansen GA, Ferdinandusse S, Skjeldal OH, Stokke O, de Groot CJ, Jakobs C, Wanders RJ. Jansen GA, et al. Among authors: skjeldal oh. J Inherit Metab Dis. 1998 Jun;21(3):288-91. doi: 10.1023/a:1005388710197. J Inherit Metab Dis. 1998. PMID: 9686377 No abstract available.

3

Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease.

Jansen GA, Hogenhout EM, Ferdinandusse S, Waterham HR, Ofman R, Jakobs C, Skjeldal OH, Wanders RJ. Jansen GA, et al. Among authors: skjeldal oh. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344

4

Refsum disease, peroxisomes and phytanic acid oxidation: a review.

Wanders RJ, Jansen GA, Skjeldal OH. Wanders RJ, et al. Among authors: skjeldal oh. J Neuropathol Exp Neurol. 2001 Nov;60(11):1021-31. doi: 10.1093/jnen/60.11.1021. J Neuropathol Exp Neurol. 2001. PMID: 11706932 Review.

5

Evidence against alpha-hydroxyphytanic acid as an intermediate in the metabolism of phytanic acid.

Skjeldal OH, Stokke O. Skjeldal OH, et al. Scand J Clin Lab Invest. 1988 Feb;48(1):97-102. doi: 10.3109/00365518809085400. Scand J Clin Lab Invest. 1988. PMID: 2464193

6

The subcellular localization of phytanic acid oxidase in rat liver.

Skjeldal OH, Stokke O. Skjeldal OH, et al. Biochim Biophys Acta. 1987 Sep 4;921(1):38-42. doi: 10.1016/0005-2760(87)90167-6. Biochim Biophys Acta. 1987. PMID: 3620488

7

Phytanic acid alpha-oxidation and complementation analysis of classical Refsum and peroxisomal disorders.

Poll-The BT, Skjeldal OH, Stokke O, Poulos A, Demaugre F, Saudubray JM. Poll-The BT, et al. Among authors: skjeldal oh. Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897. Hum Genet. 1989. PMID: 2463966

8

Phenotype of adult Refsum disease due to a defect in peroxin 7.

Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, Stokke OH, Moser H, Skjeldal OH. Horn MA, et al. Among authors: skjeldal oh. Neurology. 2007 Feb 27;68(9):698-700. doi: 10.1212/01.wnl.0000255960.01644.39. Neurology. 2007. PMID: 17325280

9

Disorders related to the metabolism of phytanic acid.

Stokke O, Skjeldal OH, Høie K. Stokke O, et al. Among authors: skjeldal oh. Scand J Clin Lab Invest Suppl. 1986;184:3-10. Scand J Clin Lab Invest Suppl. 1986. PMID: 2438746 Review.

10

Neurological disorders and phytanic acid metabolism.

Skjeldal OH, Nyberg-Hansen R, Stokke O. Skjeldal OH, et al. Acta Neurol Scand. 1988 Oct;78(4):324-8. doi: 10.1111/j.1600-0404.1988.tb03664.x. Acta Neurol Scand. 1988. PMID: 3223227

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