Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome von Rombach, Saskia M, Aerts, Johannes M F G, Poorthuis, Ben J H M, Groener, Johanna E M, Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A, Hollak, Carla E M, Linthorst, Gabor E

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Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease von Smid, Bouwien E, van der Tol, Linda, Biegstraaten, Marieke, Linthorst, Gabor E, Hollak, Carla E M, Poorthuis, Ben J H M

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HPLC for Simultaneous Quantification of Total Ceramide, Glucosylceramide, and Ceramide Trihexoside Concentrations in Plasma von Groener, Johanna E.M, Poorthuis, Ben J.H.M, Kuiper, Sijmen, Helmond, Mariette T.J, Hollak, Carla E.M, Aerts, Johannes M.F.G

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Analysis of urinary oligosaccharides in lysosomal storage disorders by capillary high-performance anion-exchange chromatography–mass spectrometry von Bruggink, Cees, Poorthuis, Ben J. H. M., Deelder, André M., Wuhrer, Manfred

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Late-onset MNGIE due to partial loss of thymidine phosphorylase activity von Martí, Ramon, Verschuuren, Jan J. G. M., Buchman, Alan, Hirano, Ikuo, Tadesse, Saba, van Kuilenburg, André B. P., van Gennip, Albert H., Poorthuis, Ben J. H. M., Hirano, Michio

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Inhaled nitric oxide attenuates pulmonary inflammation and fibrin deposition and prolongs survival in neonatal hyperoxic lung injury von ter Horst, Simone A. J, Walther, Frans J, Poorthuis, Ben J. H. M, Hiemstra, Pieter S, Wagenaar, Gerry T. M

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Cord blood Clara cell protein CC16 predicts the development of bronchopulmonary dysplasia von Schrama, Alexandra J. J., Bernard, Alfred, Poorthuis, Ben J. H. M., Zwinderman, Aeilko H., Berger, Howard M., Walther, Frans J.

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Quantification of sulfatides and lysosulfatides in tissues and body fluids by liquid chromatography-tandem mass spectrometry[S] von Mirzaian, Mina, Kramer, Gertjan, Poorthuis, Ben J.H.M.

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Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome) von Hřebíček, Martin, Mrázová, Lenka, Seyrantepe, Volkan, Durand, Stéphanie, Roslin, Nicole M., Nosková, Lenka, Hartmannová, Hana, Ivánek, Robert, Čížková, Alena, Poupětová, Helena, Sikora, Jakub, Uřinovská, Jana, Stránecký, Viktor, Zeman, Jiří, Lepage, Pierre, Roquis, David, Verner, Andrei, Ausseil, Jérôme, Beesley, Clare E., Maire, Irène, Poorthuis, Ben J.H.M., van de Kamp, Jiddeke, van Diggelen, Otto P., Wevers, Ron A., Hudson, Thomas J., Fujiwara, T. Mary, Majewski, Jacek, Morgan, Kenneth, Kmoch, Stanislav, Pshezhetsky, Alexey V.

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Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry von Gold, Henrik, Mirzaian, Mina, Dekker, Nick, Joao Ferraz, Maria, Lugtenburg, Johan, Codée, Jeroen D C, van der Marel, Gijs A, Overkleeft, Herman S, Linthorst, Gabor E, Groener, Johanna E M, Aerts, Johannes M, Poorthuis, Ben J H M

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Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients von Smid, Bouwien E, Rombach, Saskia M, Aerts, Johannes M F G, Kuiper, Symen, Mirzaian, Mina, Overkleeft, Hermen S, Poorthuis, Ben J H M, Hollak, Carla E M, Groener, Johanna E M, Linthorst, Gabor E

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Enzyme Activity for Determination of Presence of Fabry Disease in Women Results in 40% False-Negative Results von Linthorst, Gabor E., MD, PhD, Poorthuis, Ben J.H.M., PhD, Hollak, Carla E.M., MD, PhD

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Pentoxifylline reduces fibrin deposition and prolongs survival in neonatal hyperoxic lung injury von ter Horst, Simone A. J, Wagenaar, Gerry T. M, de Boer, Eveline, van Gastelen, Margot A, Meijers, Joost C. M, Biemond, Bart J, Poorthuis, Ben J. H. M, Walther, Frans J

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Glycan profiling of urine, amniotic fluid and ascitic fluid from galactosialidosis patients reveals novel oligosaccharides with reducing end hexose and aldohexonic acid residues von Bruggink, Cees, Poorthuis, Ben J.H.M, Piraud, Monique, Froissart, Roseline, Deelder, André M, Wuhrer, Manfred

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations von Valstar, Marlies J., Bertoli-Avella, Aida M., Wessels, Marja W., Ruijter, George J.G., de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, Sanne, Kariminejad, Roxana, Suheyl Ezgü, Fatih, Tokatli, Aysegul, Czartoryska, Barbara, Bosschaart, Ad N., van den Bos-Terpstra, Feikje, Puissant, Hugues, Bürger, Friederike, Omran, Heymut, Eckert, D., Filocamo, Mirella, Simeonov, Emil, Willems, Patrick J., Wevers, Ron A., Niermeijer, Martinus F., Halley, Dicky J.J., Poorthuis, Ben J.H.M., van Diggelen, Otto P.

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Gene expression profile and histopathology of experimental bronchopulmonary dysplasia induced by prolonged oxidative stress von Wagenaar, Gerry T.M, ter Horst, Simone A.J, van Gastelen, Margôt A, Leijser, Lara M, Mauad, Thais, van der Velden, Pieter A, de Heer, Emile, Hiemstra, Pieter S, Poorthuis, Ben J.H.M, Walther, Frans J

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Identification of 31 novel mutations in the N-acetylgalactosamine-6-sulfatase gene reveals excessive allelic heterogeneity among patients with Morquio A syndrome von Bunge, Susanna, Kleijer, Wim J., Tylki-Szymanska, Anna, Steglich, Cordula, Beck, Michael, Tomatsu, Shunji, Fukuda, Seiji, Poorthuis, Ben J. H. M., Czartoryska, Barbara, Orii, Tadao, Gal, Andreas

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Donor-Derived Cells in the Central Nervous System of Twitcher Mice after Bone Marrow Transplantation von Hoogerbrugge, Peter M., Suzuki, Kinuko, Suzuki, Kunihiko, Ben J. H. M. Poorthuis, Kobayashi, Takuro, Wagemaker, Gerard, Van Bekkum, Dirk W.

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Long-Term Effect of Antibodies against Infused Alpha-Galactosidase A in Fabry Disease on Plasma and Urinary von Rombach, Saskia M, Aerts, Johannes M. F. G, Poorthuis, Ben J. H. M, Groener, Johanna E. M, Donker-Koopman, Wilma, Hendriks, Erik, Mirzaian, Mina, Kuiper, Sijmen, Wijburg, Frits A, Hollak, Carla E. M, Linthorst, Gabor E

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Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutationsb von Valstar, Marlies J, Bertoli-Avella, Aida M, Wessels, Marja W, Ruijter, George J.G, de Graaf, Bianca, Olmer, Renske, Elfferich, Peter, Neijs, Sanne, Kariminejad, Roxana, Suheyl Ezgü, Fatih, Tokatli, Aysegul, Czartoryska, Barbara, Bosschaart, Ad N, van den Bos-Terpstra, Feikje, Puissant, Hugues, Bürger, Friederike, Omran, Heymut, Eckert, D, Filocamo, Mirella, Simeonov, Emil, Willems, Patrick J, Wevers, Ron A, Niermeijer, Martinus F, Halley, Dicky J.J, Poorthuis, Ben J.H.M, van Diggelen, Otto P

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