Oostheim W - Search Results

1

Heterozygosity for the common LCHAD mutation (1528g>C) is not a major cause of HELLP syndrome and the prevalence of the mutation in the Dutch population is low.

den Boer ME, Ijlst L, Wijburg FA, Oostheim W, van Werkhoven MA, van Pampus MG, Heymans HS, Wanders RJ. den Boer ME, et al. Among authors: oostheim w. Pediatr Res. 2000 Aug;48(2):151-4. doi: 10.1203/00006450-200008000-00006. Pediatr Res. 2000. PMID: 10926288

2

Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations.

IJlst L, Oostheim W, Ruiter JP, Wanders RJ. IJlst L, et al. Among authors: oostheim w. J Inherit Metab Dis. 1997 Jul;20(3):420-2. doi: 10.1023/a:1005310903004. J Inherit Metab Dis. 1997. PMID: 9266371 No abstract available.

3

Molecular basis of hepatic carnitine palmitoyltransferase I deficiency.

IJlst L, Mandel H, Oostheim W, Ruiter JP, Gutman A, Wanders RJ. IJlst L, et al. Among authors: oostheim w. J Clin Invest. 1998 Aug 1;102(3):527-31. doi: 10.1172/JCI2927. J Clin Invest. 1998. PMID: 9691089 Free PMC article.

4

Molecular basis of Sjögren-Larsson syndrome: frequency of the 1297-1298 del GA and 943C-->T mutation in 29 patients.

Ijlst L, Oostheim W, van Werkhoven M, Willemsen MA, Wanders RJ. Ijlst L, et al. Among authors: oostheim w. J Inherit Metab Dis. 1999 May;22(3):319-21. doi: 10.1023/a:1005508205450. J Inherit Metab Dis. 1999. PMID: 10384396 No abstract available.

5

Functional analysis of mutant human carnitine acylcarnitine translocases in yeast.

IJlst L, van Roermund CW, Iacobazzi V, Oostheim W, Ruiter JP, Williams JC, Palmieri F, Wanders RJ. IJlst L, et al. Among authors: oostheim w. Biochem Biophys Res Commun. 2001 Jan 26;280(3):700-6. doi: 10.1006/bbrc.2000.4178. Biochem Biophys Res Commun. 2001. PMID: 11162577

6

Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein.

Ferdinandusse S, van Grunsven EG, Oostheim W, Denis S, Hogenhout EM, IJlst L, van Roermund CW, Waterham HR, Goldfischer S, Wanders RJ. Ferdinandusse S, et al. Among authors: oostheim w. Am J Hum Genet. 2002 Jun;70(6):1589-93. doi: 10.1086/340970. Epub 2002 Apr 23. Am J Hum Genet. 2002. PMID: 11992265 Free PMC article.

7

Identification of novel mutations in classical galactosemia.

Bosch AM, Ijlst L, Oostheim W, Mulders J, Bakker HD, Wijburg FA, Wanders RJ, Waterham HR. Bosch AM, et al. Among authors: oostheim w. Hum Mutat. 2005 May;25(5):502. doi: 10.1002/humu.9330. Hum Mutat. 2005. PMID: 15841485

8

Molecular cloning and expression of human L-pipecolate oxidase.

IJlst L, de Kromme I, Oostheim W, Wanders RJ. IJlst L, et al. Among authors: oostheim w. Biochem Biophys Res Commun. 2000 Apr 21;270(3):1101-5. doi: 10.1006/bbrc.2000.2575. Biochem Biophys Res Commun. 2000. PMID: 10772957

9

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities.

de Vet EC, Ijlst L, Oostheim W, Dekker C, Moser HW, van Den Bosch H, Wanders RJ. de Vet EC, et al. Among authors: oostheim w. J Lipid Res. 1999 Nov;40(11):1998-2003. J Lipid Res. 1999. PMID: 10553003 Free article.

10

Identification of a missense mutation in a patient with lethal carnitine acyl-carnitine carrier deficiency.

IJx353L, Ruiter JP, Oostheim W, Niezen-Koning KE, Palmieri F, Wanders RJ. IJx353L, et al. Among authors: oostheim w. Adv Exp Med Biol. 1999;466:347-51. doi: 10.1007/0-306-46818-2_40. Adv Exp Med Biol. 1999. PMID: 10709662 No abstract available.

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