Stokke OH - Search Results

1

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: stokke oh. Neurology. 2007 Feb 27;68(9):698-700. doi: 10.1212/01.wnl.0000255960.01644.39. Neurology. 2007. PMID: 17325280

2

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

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

3

Neurological disorders and phytanic acid metabolism.

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

4

Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination.

Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O. Torvik A, et al. J Neurol Sci. 1988 May;85(1):39-53. doi: 10.1016/0022-510x(88)90034-2. J Neurol Sci. 1988. PMID: 2455020

5

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: stokke o. Hum Genet. 1989 Jan;81(2):175-81. doi: 10.1007/BF00293897. Hum Genet. 1989. PMID: 2463966

6

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: stokke o. Nat Genet. 1997 Oct;17(2):190-3. doi: 10.1038/ng1097-190. Nat Genet. 1997. PMID: 9326940

7

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: stokke o. 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.

8

Complementation analysis of peroxisomal disorders and classical Refsum.

Poll-The BT, Skjeldal OH, Stokke O, Demaugre F, Saudubray JM. Poll-The BT, et al. Among authors: stokke o. Prog Clin Biol Res. 1990;321:537-43. Prog Clin Biol Res. 1990. PMID: 1691507 No abstract available.

9

Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome?

Strømme P, Stokke O, Jellum E, Skjeldal OH, Baumgartner R. Strømme P, et al. Among authors: stokke o. Clin Genet. 1995 Jul;48(1):1-5. doi: 10.1111/j.1399-0004.1995.tb04045.x. Clin Genet. 1995. PMID: 7586637

10

Peroxisomal beta-oxidation of polyunsaturated long chain fatty acids in human fibroblasts. The polyunsaturated and the saturated long chain fatty acids are retroconverted by the same acyl-CoA oxidase.

Christensen E, Woldseth B, Hagve TA, Poll-The BT, Wanders RJ, Sprecher H, Stokke O, Christophersen BO. Christensen E, et al. Scand J Clin Lab Invest Suppl. 1993;215:61-74. doi: 10.3109/00365519309090698. Scand J Clin Lab Invest Suppl. 1993. PMID: 8327852

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