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2012 1
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2016 2
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Page 1
Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.
Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE. Smid BE, et al. Among authors: van der tol l. Int J Cardiol. 2014 Dec 15;177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Int J Cardiol. 2014. PMID: 25442977 Review.
Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.
van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE. van der Tol L, et al. Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20. Mol Genet Metab. 2015. PMID: 25187469
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. 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
Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.
van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M. van der Tol L, et al. JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16. JIMD Rep. 2014. PMID: 25224312 Free PMC article.