Gaucher disease type 3 from infancy through adulthood: a conceptual model of signs, symptoms, and impacts associated with ataxia and cognitive impairment by Raphael Schiffmann, James Turnbull, Robert Krupnick, Ruth Pulikottil-Jacob, Chad Gwaltney, Alaa Hamed, Isabela Batsu, Walter Heine, Eugen Mengel

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A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE) by Bénédicte Héron, Spyros Batzios, Eugen Mengel, Roberto Giugliani, Marc Patterson, Matthias Gautschi, Peter Cornelisse, Luba Trokan, Barbara Schwierin, Marianne Rohrbach

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RECOMMENDATIONS FOR DIAGNOSTICS AND TREATMENT OF NIEMANN-PICK TYPE C DISEASE by James E. Wraith, Matthias R. Baumgartner, Bruno Bembi, Athanasios Covanis, Thierry Levade, Eugen Mengel, Merce Pineda, Frederic Sedel, Meral Topcu, Marie T. Vanier, Hakan Widner, Frits A. Wijburg, Marc C. Pattersonm

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Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severi... by Eugen Mengel, Marc C. Patterson, Rosalia M. Da Riol, Mireia Del Toro, Federica Deodato, Matthias Gautschi, Stephanie Grunewald, Sabine Weller Grønborg, Paul Harmatz, Julia B. Hennermann, Bénédicte Héron, Esther M. Maier, Agathe Roubertie, Saikat Santra, Anna Tylki-Szymanska, Lisa LaGorio, Elizabeth Berry-Kravis, Forbes D. Porter, Beth Solomon, Louise Himmelstrup, Travis Mickle, Sven Guenther, Christine í Dali

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