Vaz FM - Search Results

1

Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variation.

Coene KLM, Timmer C, Goorden SMI, Ten Hoedt AE, Kluijtmans LAJ, Janssen MCH, Rennings AJM, Prinsen HCMT, Wamelink MMC, Ruijter GJG, Körver-Keularts IMLW, Heiner-Fokkema MR, van Spronsen FJ, Hollak CE, Vaz FM, Bosch AM, Huigen MCDG. Coene KLM, et al. Among authors: vaz fm. JIMD Rep. 2020 Nov 22;58(1):70-79. doi: 10.1002/jmd2.12186. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728249 Free PMC article.

2

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.

3

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

Schooneman MG, Houtkooper RH, Hollak CE, Wanders RJ, Vaz FM, Soeters MR, Houten SM. Schooneman MG, et al. Among authors: vaz fm. Biochim Biophys Acta. 2016 Aug;1862(8):1375-82. doi: 10.1016/j.bbadis.2016.04.012. Epub 2016 Apr 22. Biochim Biophys Acta. 2016. PMID: 27112275 Free article.

4

Reliable Diagnosis of Carnitine Palmitoyltransferase Type IA Deficiency by Analysis of Plasma Acylcarnitine Profiles.

Heiner-Fokkema MR, Vaz FM, Maatman R, Kluijtmans LA, van Spronsen FJ, Reijngoud DJ. Heiner-Fokkema MR, et al. Among authors: vaz fm. JIMD Rep. 2017;32:33-39. doi: 10.1007/8904_2016_564. Epub 2016 Jun 14. JIMD Rep. 2017. PMID: 27295194 Free PMC article.

5

Catecholamines profiles at diagnosis: Increased diagnostic sensitivity and correlation with biological and clinical features in neuroblastoma patients.

Verly IR, van Kuilenburg AB, Abeling NG, Goorden SM, Fiocco M, Vaz FM, van Noesel MM, Zwaan CM, Kaspers GL, Merks JH, Caron HN, Tytgat GA. Verly IR, et al. Among authors: vaz fm. Eur J Cancer. 2017 Feb;72:235-243. doi: 10.1016/j.ejca.2016.12.002. Epub 2017 Jan 4. Eur J Cancer. 2017. PMID: 28061374

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

Long-Term Dose-Dependent Agalsidase Effects on Kidney Histology in Fabry Disease.

Skrunes R, Tøndel C, Leh S, Larsen KK, Houge G, Davidsen ES, Hollak C, van Kuilenburg ABP, Vaz FM, Svarstad E. Skrunes R, et al. Among authors: vaz fm. Clin J Am Soc Nephrol. 2017 Sep 7;12(9):1470-1479. doi: 10.2215/CJN.01820217. Epub 2017 Jun 16. Clin J Am Soc Nephrol. 2017. PMID: 28625968 Free PMC article.

8

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM. Arends M, et al. Among authors: vaz fm. PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017. PLoS One. 2017. PMID: 28763515 Free PMC article.

9

3-Methoxytyramine: An independent prognostic biomarker that associates with high-risk disease and poor clinical outcome in neuroblastoma patients.

Verly IRN, van Kuilenburg ABP, Abeling NGGM, Goorden SMI, Fiocco M, Vaz FM, van Noesel MM, Zwaan CM, Kaspers GJL, Merks JHM, Caron HN, Tytgat GAM. Verly IRN, et al. Among authors: vaz fm. Eur J Cancer. 2018 Feb;90:102-110. doi: 10.1016/j.ejca.2017.11.025. Epub 2017 Dec 21. Eur J Cancer. 2018. PMID: 29274926

10

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

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