Vaz FM - Search Results

1

Recommendations for newborn screening for galactokinase deficiency: A systematic review and evaluation of Dutch newborn screening data.

Stroek K, Bouva MJ, Schielen PCJI, Vaz FM, Heijboer AC, de Jonge R, Boelen A, Bosch AM. Stroek K, et al. Among authors: vaz fm. Mol Genet Metab. 2018 May;124(1):50-56. doi: 10.1016/j.ymgme.2018.03.008. Epub 2018 Mar 21. Mol Genet Metab. 2018. PMID: 29580649

2

An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry.

van Vlies N, Ruiter JP, Doolaard M, Wanders RJ, Vaz FM. van Vlies N, et al. Among authors: vaz fm. Mol Genet Metab. 2007 Jan;90(1):24-9. doi: 10.1016/j.ymgme.2006.07.006. Epub 2006 Aug 28. Mol Genet Metab. 2007. PMID: 16935015

3

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Huidekoper HH, Vaz FM, Verrips A, Bosch AM. Huidekoper HH, et al. Among authors: vaz fm. Eur J Pediatr. 2016 Jan;175(1):143-6. doi: 10.1007/s00431-015-2584-7. Epub 2015 Jul 10. Eur J Pediatr. 2016. PMID: 26156051 Free PMC article.

4

Update on newborn dried bloodspot testing for cerebrotendinous xanthomatosis: An available high-throughput liquid-chromatography tandem mass spectrometry method.

Bleyle L, Huidekoper HH, Vaz FM, Singh R, Steiner RD, DeBarber AE. Bleyle L, et al. Among authors: vaz fm. Mol Genet Metab Rep. 2016 Mar 12;7:11-5. doi: 10.1016/j.ymgmr.2016.02.002. eCollection 2016 Jun. Mol Genet Metab Rep. 2016. PMID: 27331003 Free PMC article.

5

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios.

Vaz FM, Bootsma AH, Kulik W, Verrips A, Wevers RA, Schielen PC, DeBarber AE, Huidekoper HH. Vaz FM, et al. J Lipid Res. 2017 May;58(5):1002-1007. doi: 10.1194/jlr.P075051. Epub 2017 Mar 17. J Lipid Res. 2017. PMID: 28314860 Free PMC article.

6

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M. Arends M, et al. Among authors: vaz fm. Mol Genet Metab. 2017 Jun;121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. Epub 2017 May 4. Mol Genet Metab. 2017. PMID: 28495078

7

Identification and diagnostic value of phytanoyl- and pristanoyl-carnitine in plasma from patients with peroxisomal disorders.

Herzog K, van Lenthe H, Wanders RJA, Vaz FM, Waterham HR, Ferdinandusse S. Herzog K, et al. Among authors: vaz fm. Mol Genet Metab. 2017 Jul;121(3):279-282. doi: 10.1016/j.ymgme.2017.05.003. Epub 2017 May 6. Mol Genet Metab. 2017. PMID: 28566232

8

Comparison of C26:0-carnitine and C26:0-lysophosphatidylcholine as diagnostic markers in dried blood spots from newborns and patients with adrenoleukodystrophy.

Huffnagel IC, van de Beek MC, Showers AL, Orsini JJ, Klouwer FCC, Dijkstra IME, Schielen PC, van Lenthe H, Wanders RJA, Vaz FM, Morrissey MA, Engelen M, Kemp S. Huffnagel IC, et al. Among authors: vaz fm. Mol Genet Metab. 2017 Dec;122(4):209-215. doi: 10.1016/j.ymgme.2017.10.012. Epub 2017 Oct 28. Mol Genet Metab. 2017. PMID: 29089175

9

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM. Voorink-Moret M, et al. Among authors: vaz fm. Mol Genet Metab. 2018 Feb;123(2):76-84. doi: 10.1016/j.ymgme.2017.12.431. Epub 2017 Dec 22. Mol Genet Metab. 2018. PMID: 29290526

10

Biochemical and imaging parameters in acid sphingomyelinase deficiency: Potential utility as biomarkers.

Eskes ECB, Sjouke B, Vaz FM, Goorden SMI, van Kuilenburg ABP, Aerts JMFG, Hollak CEM. Eskes ECB, et al. Among authors: vaz fm. Mol Genet Metab. 2020 May;130(1):16-26. doi: 10.1016/j.ymgme.2020.02.002. Epub 2020 Feb 12. Mol Genet Metab. 2020. PMID: 32088119 Review.

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