Oostheim W - Search Results

1

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.

2

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.

3

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

4

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.

5

A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiency.

Ferdinandusse S, Te Brinke H, Ruiter JPN, Haasjes J, Oostheim W, van Lenthe H, IJlst L, Ebberink MS, Wanders RJA, Vaz FM, Waterham HR. Ferdinandusse S, et al. Among authors: oostheim w. Hum Mutat. 2019 Oct;40(10):1899-1904. doi: 10.1002/humu.23839. Epub 2019 Jul 3. Hum Mutat. 2019. PMID: 31187905 Free PMC article.

6

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.

7

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

8

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

9

Alkyl-dihydroxyacetonephosphate synthase. Fate in peroxisome biogenesis disorders and identification of the point mutation underlying a single enzyme deficiency.

de Vet EC, Ijlst L, Oostheim W, Wanders RJ, van den Bosch H. de Vet EC, et al. Among authors: oostheim w. J Biol Chem. 1998 Apr 24;273(17):10296-301. doi: 10.1074/jbc.273.17.10296. J Biol Chem. 1998. PMID: 9553082 Free article.

10

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.

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