Enzyme replacement therapy with laronidase (Aldurazyme) for treating mucopolysaccharidosis type I von Jameson, Elisabeth, Jones, Simon, Wraith, James E

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Miglustat for treatment of Niemann-Pick C disease: a randomised controlled study von Patterson, Marc C, FRACP, Vecchio, Darleen, Prady, Helena, Abel, Larry, PhD, Wraith, James E, FRCPCH

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Mucopolysaccharidosis I: Management and Treatment Guidelines von Muenzer, Joseph, Wraith, James E, Clarke, Lorne A, and International Consensus Panel on Management and Treatment of Mucopolysaccharidosis I

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Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease von Scarpa, Maurizio, Almássy, Zsuzsanna, Beck, Michael, Bodamer, Olaf, Bruce, Iain A, De Meirleir, Linda, Guffon, Nathalie, Guillén-Navarro, Encarna, Hensman, Pauline, Jones, Simon, Kamin, Wolfgang, Kampmann, Christoph, Lampe, Christina, Lavery, Christine A, Teles, Elisa Leão, Link, Bianca, Lund, Allan M, Malm, Gunilla, Pitz, Susanne, Rothera, Michael, Stewart, Catherine, Tylki-Szymańska, Anna, van der Ploeg, Ans, Walker, Robert, Zeman, Jiri, Wraith, James E

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Management Guidelines for Mucopolysaccharidosis VI von Giugliani, Roberto, Harmatz, Paul, Wraith, James E

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Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease von Schwerd, Tobias, Pandey, Sumeet, Yang, Huei-Ting, Bagola, Katrin, Jameson, Elisabeth, Jung, Jonathan, Lachmann, Robin H, Shah, Neil, Patel, Smita Y, Booth, Claire, Runz, Heiko, Düker, Gesche, Bettels, Ruth, Rohrbach, Marianne, Kugathasan, Subra, Chapel, Helen, Keshav, Satish, Elkadri, Abdul, Platt, Nick, Muise, Alexio M, Koletzko, Sibylle, Xavier, Ramnik J, Marquardt, Thorsten, Powrie, Fiona, Wraith, James E, Gyrd-Hansen, Mads, Platt, Frances M, Uhlig, Holm H

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Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings von Laraway, Sarah, Breen, Catherine, Mercer, Jean, Jones, Simon, Wraith, James E.

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Natural history of alpha mannosidosis a longitudinal study von Beck, Michael, Olsen, Klaus J, Wraith, James E, Zeman, Jiri, Michalski, Jean-Claude, Saftig, Paul, Fogh, Jens, Malm, Dag

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Miglustat in adult and juvenile patients with Niemann–Pick disease type C: Long-term data from a clinical trial von Wraith, James E., Vecchio, Darleen, Jacklin, Elizabeth, Abel, Larry, Chadha-Boreham, Harbajan, Luzy, Cécile, Giorgino, Ruben, Patterson, Marc C.

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Recommendations on the diagnosis and management of Niemann-Pick disease type C von Wraith, James E., Baumgartner, Matthias R., Bembi, Bruno, Covanis, Athanasios, Levade, Thierry, Mengel, Eugen, Pineda, Mercè, Sedel, Frédéric, Topçu, Meral, Vanier, Marie T., Widner, Hakan, Wijburg, Frits A., Patterson, Marc C.

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Natural history and galsulfase treatment in mucopolysaccharidosis VI (MPS VI, Maroteaux-Lamy syndrome)-10-year follow-up of patients who previously participated in an MPS VI survey... von Giugliani, Roberto, Lampe, Christina, Guffon, Nathalie, Ketteridge, David, Leão-Teles, Elisa, Wraith, James E., Jones, Simon A., Piscia-Nichols, Cheri, Lin, Ping, Quartel, Adrian, Harmatz, Paul

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Airway-Related Symptoms and Surgeries in Patients With Mucopolysaccharidosis I von Arn, Pamela, Bruce, Iain A., Wraith, James E., Travers, Helen, Fallet, Shari

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Long-Term Miglustat Therapy in Children With Niemann-Pick Disease Type C von Patterson, Marc C., Vecchio, Darleen, Jacklin, Elizabeth, Abel, Larry, Chadha-Boreham, Harbajan, Luzy, Cecile, Giorgino, Ruben, Wraith, James E.

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Idursulfase treatment of Hunter syndrome in children younger than 6 years: Results from the Hunter Outcome Survey von Muenzer, Joseph, Beck, Michael, Giugliani, Roberto, Suzuki, Yasuyuki, Tylki-Szymanska, Anna, Valayannopoulos, Vassili, Vellodi, Ashok, Wraith, James E.

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A phase II/III clinical study of enzyme replacement therapy with idursulfase in mucopolysaccharidosis II (Hunter syndrome) von Muenzer, Joseph, Wraith, James E, Beck, Michael, Giugliani, Roberto, Harmatz, Paul, Eng, Christine M, Vellodi, Ashok, Martin, Rick, Ramaswami, Uma, Gucsavas-Calikoglu, Muge, Vijayaraghavan, Suresh, Wendt, Susanne, Wendt, Suzanne, Puga, Ana Cristina, Puga, Antonio, Ulbrich, Brian, Shinawi, Marwan, Cleary, Maureen, Piper, Diane, Conway, Anne Marie, Conway, Ann Marie, Kimura, Alan

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Long-term, open-labeled extension study of idursulfase in the treatment of Hunter syndrome von Muenzer, Joseph, Beck, Michael, Eng, Christine M., Giugliani, Roberto, Harmatz, Paul, Martin, Rick, Ramaswami, Uma, Vellodi, Ashok, Wraith, James E., Cleary, Maureen, Gucsavas-Calikoglu, Muge, Puga, Ana Cristina, Shinawi, Marwan, Ulbrich, Birgit, Vijayaraghavan, Suresh, Wendt, Susanne, Conway, Anne Marie, Rossi, Alexandra, Whiteman, David A.H., Kimura, Alan

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Assessment of sleep in children with mucopolysaccharidosis type III von Mahon, Louise Victoria, Lomax, Michelle, Grant, Sheena, Cross, Elaine, Hare, Dougal Julian, Wraith, James Ed, Jones, Simon, Bigger, Brian, Langford-Smith, Kia, Canal, Maria

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Enzyme replacement therapy with laronidase (Aldurazyme(®)) for treating mucopolysaccharidosis type I von Jameson, Elisabeth, Jones, Simon, Wraith, James E

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Enzyme replacement therapy for mucopolysaccharidosis I: a randomized, double-blinded, placebo-controlled, multinational study of recombinant human α-L-iduronidase (laronidase) von Wraith, James E, Clarke, Lorne A, Beck, Michael, Kolodny, Edwin H, Pastores, Gregory M, Muenzer, Joseph, Rapoport, David M, Berger, Kenneth I, Swiedler, Stuart J, Kakkis, Emil D, Braakman, Tanja, Chadbourne, Elenie, Walton-Bowen, Karen, Cox, Gerald F

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Mutations in VPS33B , encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome von Stapelbroek, Janneke M, Morgan, Neil V, Johnson, Colin A, Lo, Bryan, Karet, Fiona E, McKiernan, Patrick J, Knisely, A S, Forshew, Tim, Morris, Andrew A M, Trembath, Richard C, Houwen, Roderick H J, Wraith, James E, Quarrell, Oliver W, Cooper, Wendy N, Maher, Eamonn R, Klomp, Leo W J, Thompson, Richard J, Wali, S, Gissen, Paul, Kelly, Deirdre A, McClean, Patricia, Di Rocco, Maja, Mandel, Hanna, Lynch, Sally A

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