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Peter Norman. (2016) Orphan drug approvals of 2015: Europe and the United States. Expert Opinion on Orphan Drugs 4:5, pages 491-500.
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Sawa Ito & A. John Barrett. (2013) Gauchers Disease—A Reappraisal of Hematopoietic Stem Cell Transplantation. Pediatric Hematology and Oncology 30:2, pages 61-70.
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Gregory M Pastores. (2011) Velaglucerase alfa as a therapeutic option for Gaucher disease. Expert Review of Endocrinology & Metabolism 6:1, pages 13-20.
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Pilar Giraldo, Marcio Andrade-Campos, Pilar Alfonso, Pilar Irun, Koldo Atutxa, Antonio Acedo, Abelardo Barez, Margarita Blanes, Vicente Diaz-Morant, Ma Angeles Fernández-Galán, Rafael Franco, Cristina Gil-Cortes, Vicente Giner, Angela Ibañez, Paz Latre, Ines Loyola, Elisa Luño, Roberto Hernández-Martin, Blanca Medrano-Engay, José Puerta, Inmaculada Roig, Javier de la Serna, Olga Salamero, Lucia Villalón & Miguel Pocovi. (2018) Twelve years of experience with miglustat in the treatment of type 1 Gaucher disease: The Spanish ZAGAL project. Blood Cells, Molecules, and Diseases 68, pages 173-179.
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Saki SultanaNhu Y. TruongDouglas B. VieiraJasper G.D. WiggerA. Michael ForresterChansey J. VeinotteJason N. BermanAarnoud C. van der Spoel. (2016) Characterization of the Zebrafish Homolog of β-Glucosidase 2: A Target of the Drug Miglustat. Zebrafish 13:3, pages 177-187.
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Saki Sultana, Jennifer Reichbauer, Rebecca Schüle, Fanny Mochel, Matthis Synofzik & Aarnoud C. van der Spoel. (2015) Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46). Biochemical and Biophysical Research Communications 465:1, pages 35-40.
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Gregory M Pastores & Derralynn Hughes. (2014) Eliglustat tartrate: an oral therapeutic option for Gaucher disease type 1. Clinical Investigation 4:1, pages 45-53.
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Christina M. Ridley, Karen E. Thur, Jessica Shanahan, Nagendra Babu Thillaiappan, Ann Shen, Karly Uhl, Charlotte M. Walden, Ahad A. Rahim, Simon N. Waddington, Frances M. Platt & Aarnoud C. van der Spoel. (2013) β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology. Journal of Biological Chemistry 288:36, pages 26052-26066.
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David J. Kuter, Atul Mehta, Carla E.M. Hollak, Pilar Giraldo, Derralynn Hughes, Nadia Belmatoug, Monika Brand, Audrey Muller, Berthold Schaaf, Ruben Giorgino & Ari Zimran. (2013) Miglustat therapy in type 1 Gaucher disease: Clinical and safety outcomes in a multicenter retrospective cohort study. Blood Cells, Molecules, and Diseases 51:2, pages 116-124.
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Ethan D. Goddard-Borger, Michael B. Tropak, Sayuri Yonekawa, Christina Tysoe, Don J. Mahuran & Stephen G. Withers. (2012) Rapid Assembly of a Library of Lipophilic Iminosugars via the Thiol–Ene Reaction Yields Promising Pharmacological Chaperones for the Treatment of Gaucher Disease. Journal of Medicinal Chemistry 55:6, pages 2737-2745.
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Ehud Goldin, Wei Zheng, Omid Motabar, Noel Southall, Jae Hyuk Choi, Juan Marugan, Christopher P. Austin & Ellen Sidransky. (2012) High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase. PLoS ONE 7:1, pages e29861.
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Jin-Koo LeeJin-Kyu KimSoo-Hyun ParkYun-Beom SimJun-Sub JungHong-Won Suh. (2011) Lactosylceramide Mediates the Expression of Adhesion Molecules in TNF-α and IFNγ-stimulated Primary Cultured Astrocytes. The Korean Journal of Physiology and Pharmacology 15:5, pages 251.
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Atul Mehta, Michael L West, Guillem Pintos-Morell, Ricardo Reisin, Kathy Nicholls, Luis E Figuera, Rossella Parini, Luiz R Carvalho, Christoph Kampmann, Gregory M Pastores & Olivier Lidove. (2010) Therapeutic goals in the treatment of Fabry disease. Genetics in Medicine 12:11, pages 713-720.
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Harry C. Dietz. (2010) New Therapeutic Approaches to Mendelian Disorders. New England Journal of Medicine 363:9, pages 852-863.
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R.M Ayto, D.A Hughes, P. Jeevaratnam, K. Rolles, A.K Burroughs, P.K Mistry, A.B Mehta & G.M Pastores. (2010) Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease. American Journal of Transplantation 10:8, pages 1934-1939.
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P. Chérin, C. Rose, C. de Roux‐Serratrice, D. Tardy, D. Dobbelaere, B. Grosbois, E. Hachulla, R. Jaussaud, R.‐M. Javier, E. Noël, P. Clerson & A. Hartmann. (2010) The neurological manifestations of Gaucher disease type 1: the French Observatoire on Gaucher disease (FROG). Journal of Inherited Metabolic Disease 33:4, pages 331-338.
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John Marshall, Kerry Anne McEachern, Wei‐Lien Chuang, Elizabeth Hutto, Craig S. Siegel, James A. Shayman, Greg A. Grabowski, Ronald K. Scheule, Diane P. Copeland & Seng H. Cheng. (2010) Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy. Journal of Inherited Metabolic Disease 33:3, pages 281-289.
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Gregory M. Pastores. (2010) Recombinant Glucocerebrosidase (Imiglucerase) as a Therapy for Gaucher Disease. BioDrugs 24:1, pages 41-47.
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