Vaz FM - 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: vaz fm. 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

Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase.

Vaz FM, van Gool S, Ofman R, Ijlst L, Wanders RJ. Vaz FM, et al. Biochem Biophys Res Commun. 1998 Sep 18;250(2):506-10. doi: 10.1006/bbrc.1998.9343. Biochem Biophys Res Commun. 1998. PMID: 9753662

3

Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency.

Vaz FM, Scholte HR, Ruiter J, Hussaarts-Odijk LM, Pereira RR, Schweitzer S, de Klerk JB, Waterham HR, Wanders RJ. Vaz FM, et al. Hum Genet. 1999 Jul-Aug;105(1-2):157-61. doi: 10.1007/s004399900105. Hum Genet. 1999. PMID: 10480371

4

Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis.

Vaz FM, Fouchier SW, Ofman R, Sommer M, Wanders RJ. Vaz FM, et al. J Biol Chem. 2000 Mar 10;275(10):7390-4. doi: 10.1074/jbc.275.10.7390. J Biol Chem. 2000. PMID: 10702312 Free article.

5

Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver.

Vaz FM, van Gool S, Ofman R, IJlst L, Wanders RJ. Vaz FM, et al. Adv Exp Med Biol. 1999;466:117-24. Adv Exp Med Biol. 1999. PMID: 10709635

6

Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis.

Vaz FM, Ofman R, Westinga K, Back JW, Wanders RJ. Vaz FM, et al. J Biol Chem. 2001 Sep 7;276(36):33512-7. doi: 10.1074/jbc.M105929200. Epub 2001 Jun 28. J Biol Chem. 2001. PMID: 11431483 Free article.

7

Carnitine biosynthesis in mammals.

Vaz FM, Wanders RJ. Vaz FM, et al. Biochem J. 2002 Feb 1;361(Pt 3):417-29. doi: 10.1042/0264-6021:3610417. Biochem J. 2002. PMID: 11802770 Free PMC article. Review.

8

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. Clin Chem. 2002 Jun;48(6 Pt 1):826-34. Clin Chem. 2002. PMID: 12028997

9

Identification of two novel mutations in OCTN2 from two Saudi patients with systemic carnitine deficiency.

Rahbeeni Z, Vaz FM, Al-Hussein K, Bucknall MP, Ruiter J, Wanders RJ, Rashed MS. Rahbeeni Z, et al. Among authors: vaz fm. J Inherit Metab Dis. 2002 Sep;25(5):363-9. doi: 10.1023/a:1020143632011. J Inherit Metab Dis. 2002. PMID: 12408185

10

Linoleic acid supplementation of Barth syndrome fibroblasts restores cardiolipin levels: implications for treatment.

Valianpour F, Wanders RJ, Overmars H, Vaz FM, Barth PG, van Gennip AH. Valianpour F, et al. Among authors: vaz fm. J Lipid Res. 2003 Mar;44(3):560-6. doi: 10.1194/jlr.M200217-JLR200. Epub 2002 Dec 16. J Lipid Res. 2003. PMID: 12562862 Free article.

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