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Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 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. 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
Radiographic evaluation of children with growth disorders.
Kant SG, Grote F, de Ru MH, Oostdijk W, Zonderland HM, Breuning MH, Wit JM. Kant SG, et al. Among authors: de ru mh. Horm Res. 2007;68(6):310-5. doi: 10.1159/000108399. Epub 2007 Sep 17. Horm Res. 2007. PMID: 17873493 Review.
12 results