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Page 1
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.
Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N. Meijer OLM, et al. Among authors: van der ploeg at, van vlies n. J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23. J Inherit Metab Dis. 2016. PMID: 26907177 Free PMC article.
Plasma and urinary levels of dermatan sulfate and heparan sulfate derived disaccharides after long-term enzyme replacement therapy (ERT) in MPS I: correlation with the timing of ERT and with total urinary excretion of glycosaminoglycans.
de Ru MH, van der Tol L, van Vlies N, Bigger BW, Hollak CE, Ijlst L, Kulik W, van Lenthe H, Saif MA, Wagemans T, van der Wal WM, Wanders RJ, Wijburg FA. de Ru MH, et al. Among authors: van der tol l, van lenthe h, van der wal wm, van vlies n. J Inherit Metab Dis. 2013 Mar;36(2):247-55. doi: 10.1007/s10545-012-9538-2. Epub 2012 Sep 19. J Inherit Metab Dis. 2013. PMID: 22991166
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Langereis EJ, van Vlies N, Church HJ, Geskus RB, Hollak CE, Jones SA, Kulik W, van Lenthe H, Mercer J, Schreider L, Tylee KL, Wagemans T, Wijburg FA, Bigger BW. Langereis EJ, et al. Among authors: van lenthe h, van vlies n. Mol Genet Metab. 2015 Feb;114(2):129-37. doi: 10.1016/j.ymgme.2014.10.012. Epub 2014 Oct 29. Mol Genet Metab. 2015. PMID: 25467058
A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.
Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N. Langereis EJ, et al. Among authors: van der ploeg at, van lenthe h, van vlies n. PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015. PLoS One. 2015. PMID: 26406883 Free PMC article.
40 results