Ferdinandusse S - Search Results

1

Cholic acid therapy in Zellweger spectrum disorders.

Berendse K, Klouwer FC, Koot BG, Kemper EM, Ferdinandusse S, Koelfat KV, Lenicek M, Schaap FG, Waterham HR, Vaz FM, Engelen M, Jansen PL, Wanders RJ, Poll-The BT. Berendse K, et al. Among authors: ferdinandusse s. J Inherit Metab Dis. 2016 Nov;39(6):859-868. doi: 10.1007/s10545-016-9962-9. Epub 2016 Jul 28. J Inherit Metab Dis. 2016. PMID: 27469511 Free PMC article.

2

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

3

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: ferdinandusse s. 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.

4

Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids.

Ferdinandusse S, Mulders J, IJlst L, Denis S, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Biochem Biophys Res Commun. 1999 Sep 16;263(1):213-8. doi: 10.1006/bbrc.1999.1340. Biochem Biophys Res Commun. 1999. PMID: 10486279

5

Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation.

Jansen GA, Ofman R, Denis S, Ferdinandusse S, Hogenhout EM, Jakobs C, Wanders RJ. Jansen GA, et al. Among authors: ferdinandusse s. J Lipid Res. 1999 Dec;40(12):2244-54. J Lipid Res. 1999. PMID: 10588950 Free article.

6

Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.

Ferdinandusse S, Denis S, Clayton PT, Graham A, Rees JE, Allen JT, McLean BN, Brown AY, Vreken P, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Nat Genet. 2000 Feb;24(2):188-91. doi: 10.1038/72861. Nat Genet. 2000. PMID: 10655068

7

Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method.

Ferdinandusse S, Denis S, van Berkel E, Dacremont G, Wanders RJ. Ferdinandusse S, et al. J Lipid Res. 2000 Mar;41(3):336-42. J Lipid Res. 2000. PMID: 10706581 Free article.

8

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: ferdinandusse s. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344

9

Subcellular localization and physiological role of alpha-methylacyl-CoA racemase.

Ferdinandusse S, Denis S, IJlst L, Dacremont G, Waterham HR, Wanders RJ. Ferdinandusse S, et al. J Lipid Res. 2000 Nov;41(11):1890-6. J Lipid Res. 2000. PMID: 11060359 Free article.

10

Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency.

Ferdinandusse S, Overmars H, Denis S, Waterham HR, Wanders RJ, Vreken P. Ferdinandusse S, et al. J Lipid Res. 2001 Jan;42(1):137-41. J Lipid Res. 2001. PMID: 11160375 Free article.

Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic acid (DHCA and THCA), which are all substrates for the peroxisomal beta-oxidation system. alpha-Methylacyl-CoA racemase plays an important role …

Patients with this disorder show elevated plasma levels of pristanic acid and the bile acid intermediates di- and trihydroxycholestanoic aci …

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