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Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways.
Hermans ME, van Weeghel M, Vaz FM, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, van Kuilenburg ABP, Pras-Raves ML, Wamelink MMC, Wanders RJA, Welsink-Karssies MM, Bosch AM. Hermans ME, et al. Among authors: van weeghel m, van kuilenburg abp. J Inherit Metab Dis. 2022 Nov;45(6):1094-1105. doi: 10.1002/jimd.12548. Epub 2022 Aug 25. J Inherit Metab Dis. 2022. PMID: 36053831
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: van kuilenburg abp. 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
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: van kuilenburg abp. 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.
Yunis-Varón syndrome caused by biallelic VAC14 mutations.
Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P; Care4Rare Consortium; Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA. Lines MA, et al. Eur J Hum Genet. 2017 Sep;25(9):1049-1054. doi: 10.1038/ejhg.2017.99. Epub 2017 Jun 21. Eur J Hum Genet. 2017. PMID: 28635952 Free PMC article.
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: van noesel mm, van kuilenburg abp. 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
185 results