Jansen GA - Search Results

1

Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease.

Jansen GA, Ferdinandusse S, Hogenhout EM, Verhoeven NM, Jakobs C, Wanders RJ. Jansen GA, et al. Adv Exp Med Biol. 1999;466:371-6. Adv Exp Med Biol. 1999. PMID: 10709665 No abstract available.

2

Identification of PEX7 as the second gene involved in Refsum disease.

Van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, de Belleroche J, Jansen GA, Waterham HR, Wanders RJ. Van den Brink DM, et al. Among authors: jansen ga. Adv Exp Med Biol. 2003;544:69-70. doi: 10.1007/978-1-4419-9072-3_9. Adv Exp Med Biol. 2003. PMID: 14713215 No abstract available.

3

Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans.

Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Denis S, Wanders RJ. Jansen GA, et al. Biochem Biophys Res Commun. 1996 Dec 4;229(1):205-10. doi: 10.1006/bbrc.1996.1781. Biochem Biophys Res Commun. 1996. PMID: 8954107 Free article.

4

Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata.

Jansen GA, Mihalik SJ, Watkins PA, Moser HW, Jakobs C, Heijmans HS, Wanders RJ. Jansen GA, et al. J Inherit Metab Dis. 1997 Jul;20(3):444-6. doi: 10.1023/a:1005379406639. J Inherit Metab Dis. 1997. PMID: 9266377 Clinical Trial. No abstract available.

5

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

6

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. 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.

7

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. J Lipid Res. 1999 Dec;40(12):2244-54. J Lipid Res. 1999. PMID: 10588950 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. Hum Mol Genet. 2000 May 1;9(8):1195-200. doi: 10.1093/hmg/9.8.1195. Hum Mol Genet. 2000. PMID: 10767344

9

Phytanic acid alpha-oxidation, new insights into an old problem: a review.

Wanders RJ, Jansen GA, Lloyd MD. Wanders RJ, et al. Among authors: jansen ga. Biochim Biophys Acta. 2003 Mar 17;1631(2):119-35. doi: 10.1016/s1388-1981(03)00003-9. Biochim Biophys Acta. 2003. PMID: 12633678 Review.

10

Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights.

Wanders RJ, van Roermund CW, Visser WF, Ferdinandusse S, Jansen GA, van den Brink DM, Gloerich J, Waterham HR. Wanders RJ, et al. Among authors: jansen ga. Adv Exp Med Biol. 2003;544:293-302. doi: 10.1007/978-1-4419-9072-3_37. Adv Exp Med Biol. 2003. PMID: 14713243 Review. No abstract available.

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