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, Minke H, Boelens, Jaap J, Das, Anibh M, Jones, Simon A, van der Lee, Johanna H, Mahlaoui, Nizar, Mengel, Eugen, Offringa, Martin, O'Meara, Anne, Parini, Rossella, Rovelli, Attilio, Sykora, Karl-Walter, Valayannopoulos, Vassili, Vellodi, Ashok, Wynn, Robert F, Wijburg, Frits A
Published in Orphanet journal of rare diseases (10.08.2011)
Published in Orphanet journal of rare diseases (10.08.2011)
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Conference Proceeding
Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III
de Ruijter, Jessica, de Ru, Minke H., Wagemans, Tom, IJlst, Lodewijk, Lund, Allan M., Orchard, Paul J., Schaefer, G. Bradley, Wijburg, Frits A., van Vlies, Naomi
Published in Molecular genetics and metabolism (01.12.2012)
Published in Molecular genetics and metabolism (01.12.2012)
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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype
Vaz, Frédéric M., Paulusma, Coen C., Huidekoper, Hidde, de Ru, Minke, Lim, Cynthia, Koster, Janet, Ho‐Mok, Kam, Bootsma, Albert H., Groen, Albert K., Schaap, Frank G., Oude Elferink, Ronald P. J., Waterham, Hans R., Wanders, Ronald J.A.
Published in Hepatology (Baltimore, Md.) (01.01.2015)
Published in Hepatology (Baltimore, Md.) (01.01.2015)
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
de Ru, Minke H, Teunissen, Quirine Ga, van der Lee, Johanna H, Beck, Michael, Bodamer, Olaf A, Clarke, Lorne A, Hollak, Carla E, Lin, Shuan-Pei, Rojas, Maria-Verónica Muñoz, Pastores, Gregory M, Raiman, Julian A, Scarpa, Maurizio, Treacy, Eileen P, Tylki-Szymanska, Anna, Wraith, J Edmond, Zeman, Jiri, Wijburg, Frits A
Published in Orphanet journal of rare diseases (23.04.2012)
Published in Orphanet journal of rare diseases (23.04.2012)
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Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening
de Ru, Minke H., Bouwman, Machtelt G., Wijburg, Frits A., van Zwieten, Myra C.B.
Published in Molecular genetics and metabolism (01.11.2012)
Published in Molecular genetics and metabolism (01.11.2012)
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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, Minke H., van der Tol, Linda, van Vlies, Naomi, Bigger, Brian W., Hollak, Carla E. M., IJlst, Lodewijk, Kulik, Wim, van Lenthe, Henk, Saif, Muhammad A., Wagemans, Tom, van der Wal, Willem M., Wanders, Ronald J., Wijburg, Frits A.
Published in Journal of inherited metabolic disease (01.03.2013)
Published in Journal of inherited metabolic disease (01.03.2013)
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Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening
Bouwman, Machtelt G., de Ru, Minke H., Linthorst, Gabor E., Hollak, Carla E.M., Wijburg, Frits A., van Zwieten, Myra C.B.
Published in Molecular genetics and metabolism (01.06.2013)
Published in Molecular genetics and metabolism (01.06.2013)
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