Vaz FM - Search Results

1

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor.

Barendsen RW, Dijkstra IME, Visser WF, Alders M, Bliek J, Boelen A, Bouva MJ, van der Crabben SN, Elsinghorst E, van Gorp AGM, Heijboer AC, Jansen M, Jaspers YRJ, van Lenthe H, Metgod I, Mooij CF, van der Sluijs EHC, van Trotsenburg ASP, Verschoof-Puite RK, Vaz FM, Waterham HR, Wijburg FA, Engelen M, Dekkers E, Kemp S. Barendsen RW, et al. Among authors: vaz fm. Front Cell Dev Biol. 2020 Jun 17;8:499. doi: 10.3389/fcell.2020.00499. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 32626714 Free PMC article.

2

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

3

L-carnitine is synthesized in the human fetal-placental unit: potential roles in placental and fetal metabolism.

Oey NA, van Vlies N, Wijburg FA, Wanders RJ, Attie-Bitach T, Vaz FM. Oey NA, et al. Among authors: vaz fm. Placenta. 2006 Aug;27(8):841-6. doi: 10.1016/j.placenta.2005.10.002. Epub 2005 Nov 18. Placenta. 2006. PMID: 16300828

4

Identification and characterization of human cardiolipin synthase.

Houtkooper RH, Akbari H, van Lenthe H, Kulik W, Wanders RJ, Frentzen M, Vaz FM. Houtkooper RH, et al. Among authors: vaz fm. FEBS Lett. 2006 May 29;580(13):3059-64. doi: 10.1016/j.febslet.2006.04.054. Epub 2006 Apr 27. FEBS Lett. 2006. PMID: 16678169 Free article.

5

Prolonged moderate-intensity exercise without and with L-carnitine supplementation in patients with MCAD deficiency.

Huidekoper HH, Schneider J, Westphal T, Vaz FM, Duran M, Wijburg FA. Huidekoper HH, et al. Among authors: vaz fm. J Inherit Metab Dis. 2006 Oct;29(5):631-6. doi: 10.1007/s10545-006-0355-3. Epub 2006 Aug 2. J Inherit Metab Dis. 2006. PMID: 16972171

6

Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome.

Kulik W, van Lenthe H, Stet FS, Houtkooper RH, Kemp H, Stone JE, Steward CG, Wanders RJ, Vaz FM. Kulik W, et al. Among authors: vaz fm. Clin Chem. 2008 Feb;54(2):371-8. doi: 10.1373/clinchem.2007.095711. Epub 2007 Dec 10. Clin Chem. 2008. PMID: 18070816 Clinical Trial.

7

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome.

Houtkooper RH, Rodenburg RJ, Thiels C, van Lenthe H, Stet F, Poll-The BT, Stone JE, Steward CG, Wanders RJ, Smeitink J, Kulik W, Vaz FM. Houtkooper RH, et al. Among authors: vaz fm. Anal Biochem. 2009 Apr 15;387(2):230-7. doi: 10.1016/j.ab.2009.01.032. Epub 2009 Jan 31. Anal Biochem. 2009. PMID: 19454236

8

Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype.

Vaz FM, Paulusma CC, Huidekoper H, de Ru M, Lim C, Koster J, Ho-Mok K, Bootsma AH, Groen AK, Schaap FG, Oude Elferink RP, Waterham HR, Wanders RJ. Vaz FM, et al. Hepatology. 2015 Jan;61(1):260-7. doi: 10.1002/hep.27240. Epub 2014 Aug 25. Hepatology. 2015. PMID: 24867799

9

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Berendse K, Engelen M, Ferdinandusse S, Majoie CB, Waterham HR, Vaz FM, Koelman JH, Barth PG, Wanders RJ, Poll-The BT. Berendse K, et al. Among authors: vaz fm. J Inherit Metab Dis. 2016 Jan;39(1):93-106. doi: 10.1007/s10545-015-9880-2. Epub 2015 Aug 19. J Inherit Metab Dis. 2016. PMID: 26287655 Free PMC article.

10

The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders.

Ferdinandusse S, Ebberink MS, Vaz FM, Waterham HR, Wanders RJ. Ferdinandusse S, et al. Among authors: vaz fm. J Inherit Metab Dis. 2016 Jul;39(4):531-43. doi: 10.1007/s10545-016-9922-4. Epub 2016 Mar 4. J Inherit Metab Dis. 2016. PMID: 26943801 Free PMC article. Review.

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