Vreken P - Search Results

1

Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects.

Vreken P, van Lint AE, Bootsma AH, Overmars H, Wanders RJ, van Gennip AH. Vreken P, et al. J Inherit Metab Dis. 1999 May;22(3):302-6. doi: 10.1023/a:1005587617745. J Inherit Metab Dis. 1999. PMID: 10384392 No abstract available.

2

Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.

Skladal D, Sass JO, Geiger H, Geiger R, Mann C, Vreken P, Wanders RJ, Trawöger R. Skladal D, et al. Among authors: vreken p. J Pediatr Gastroenterol Nutr. 2000 Oct;31(4):448-52. doi: 10.1097/00005176-200010000-00023. J Pediatr Gastroenterol Nutr. 2000. PMID: 11045847 No abstract available.

3

Plasma and erythrocyte fatty acid concentrations in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.

Lund AM, Dixon MA, Vreken P, Leonard JV, Morris AA. Lund AM, et al. Among authors: vreken p. J Inherit Metab Dis. 2003;26(4):410-2. doi: 10.1023/a:1025175606891. J Inherit Metab Dis. 2003. PMID: 12971430

4

Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry.

Vaz FM, Melegh B, Bene J, Cuebas D, Gage DA, Bootsma A, Vreken P, van Gennip AH, Bieber LL, Wanders RJ. Vaz FM, et al. Among authors: vreken p. Clin Chem. 2002 Jun;48(6 Pt 1):826-34. Clin Chem. 2002. PMID: 12028997

5

Effect of dehydroepiandrosterone (DHEA) supplementation on fatty acid and hormone levels in patients with X-linked adrenoleukodystrophy.

Assies J, Haverkort EB, Lieverse R, Vreken P. Assies J, et al. Among authors: vreken p. Adv Exp Med Biol. 2003;544:243-4. doi: 10.1007/978-1-4419-9072-3_30. Adv Exp Med Biol. 2003. PMID: 14713236 Clinical Trial. No abstract available.

6

Clinical and biochemical abnormalities in a patient with dihydropyrimidine dehydrogenase deficiency due to homozygosity for the C29R mutation.

Van Kuilenburg AB, Vreken P, Riva D, Botteon G, Abeling NG, Bakker HD, Van Gennip AH. Van Kuilenburg AB, et al. Among authors: vreken p. J Inherit Metab Dis. 1999 Apr;22(2):191-2. doi: 10.1023/a:1005470524203. J Inherit Metab Dis. 1999. PMID: 10234617 No abstract available.

7

Severe 5-fluorouracil toxicity caused by reduced dihydropyrimidine dehydrogenase activity due to heterozygosity for a G-->A point mutation.

van Kuilenburg AB, Vreken P, Beex LV, De Abreu RA, van Gennip AH. van Kuilenburg AB, et al. Among authors: vreken p. J Inherit Metab Dis. 1998 Jun;21(3):280-4. doi: 10.1023/a:1005384609289. J Inherit Metab Dis. 1998. PMID: 9686375 No abstract available.

8

Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.

Vreken P, van Kuilenburg AB, Meinsma R, van Gennip AH. Vreken P, et al. Adv Exp Med Biol. 1998;431:341-6. Adv Exp Med Biol. 1998. PMID: 9598088 No abstract available.

9

Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.

Vreken P, Van Kuilenburg AB, Meinsma R, van Gennip AH. Vreken P, et al. Hum Genet. 1997 Dec;101(3):333-8. doi: 10.1007/s004390050637. Hum Genet. 1997. PMID: 9439663

10

Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.

Vreken P, Van Kuilenburg AB, Meinsma R, van Gennip AH. Vreken P, et al. J Inherit Metab Dis. 1997 Jul;20(3):335-8. doi: 10.1023/a:1005357307122. J Inherit Metab Dis. 1997. PMID: 9266349 No abstract available.

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