Search Results - "de Ru, Minke"

Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure by 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

“…Mucopolysaccharidosis type I (MPS I) is a lysosomal storage disorder that results in the accumulation of glycosaminoglycans causing progressive multi-organ…”
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Heparan sulfate and dermatan sulfate derived disaccharides are sensitive markers for newborn screening for mucopolysaccharidoses types I, II and III by 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

“…Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders (LSDs) caused by a defect in the degradation of glycosaminoglycans (GAGs). The…”
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Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: Conjugated hypercholanemia without a clear clinical phenotype by 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.

“…The enterohepatic circulation of bile salts is an important physiological route to recycle bile salts and ensure intestinal absorption of dietary lipids. The…”
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Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure by 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

“…Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS…”
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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 by de Ru, Minke H., Bouwman, Machtelt G., Wijburg, Frits A., van Zwieten, Myra C.B.

“…Newborn screening (NBS) techniques have been developed for several lysosomal storage disorders (LSDs), including Mucopolysaccharidosis type I (MPS I). MPS I is…”
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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 by 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.

“…Introduction Mucopolysaccharidosis type I (MPS I) results in a defective breakdown of the glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate, which…”
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Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening by Bouwman, Machtelt G., de Ru, Minke H., Linthorst, Gabor E., Hollak, Carla E.M., Wijburg, Frits A., van Zwieten, Myra C.B.

“…This study aimed to explore Fabry disease (FD) patients' experiences with the timing of their diagnosis and identify important patient-oriented themes relevant…”
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Heparan sulfate and dermatan sulfate disaccharide levels for newborn screening in MPS I, MPS II and MPS III by van Vlies, Naomi, de Ruijter, Jessica, de Ru, Minke, Wagemans, Tom, IJlst, Lodewijk, Wijburg, Frits

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