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Mucopolysaccharidoses

The patient journey of patients with Fabry disease, Gaucher disease and Mucopolysaccharidosis type II: A German-wide telephone survey

Eugen Mengel, Jens Gaedeke, Holger Gothe, Simon Krupka, Anja Lachmann, Jörg Reinke, Christoph Ohlmeier

published 31 Dec 2020

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Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

Maria Paola Belfiore, Francesca Iacobellis, Emma Acampora, Martina Caiazza, Marta Rubino, Emanuele Monda, Maria Rosaria Magaldi, Antonietta Tarallo, Marcella Sasso, Valeria De Pasquale, Roberto Grassi, Salvatore Cappabianca, Paolo Calabrò, Simona Fecarotta, Salvatore Esposito, Giovanni Esposito, Antonio Pisani, Luigi Michele Pavone, Giancarlo Parenti, Giuseppe Limongelli

published 19 May 2020

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Corneal topometric, aberrometric and biomechanical parameters in mucopolysaccharidosis patients

Joanna Wasielica-Poslednik, Alexander K. Schuster, Giuseppe Politino, Susanne Marx-Gross, Katharina Bell, Norbert Pfeiffer, Susanne Pitz

published 27 Jun 2019

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Efficacy and safety of intravenous laronidase for mucopolysaccharidosis type I: A systematic review and meta-analysis

Alícia Dorneles Dornelles, Osvaldo Artigalás, André Anjos da Silva, Dora Lucia Vallejo Ardila, Taciane Alegra, Tiago Veiga Pereira, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz

published 31 Aug 2017

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A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

Eveline J. Langereis, Tom Wagemans, Wim Kulik, Dirk J. Lefeber, Henk van Lenthe, Esmee Oussoren, Ans T. van der Ploeg, George J. Ruijter, Ron A. Wevers, Frits A. Wijburg, Naomi van Vlies

published 25 Sep 2015

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Ultrasonographic Features of Hip Joints in Mucopolysaccharidoses Type I and II

Zbigniew Żuber, Agnieszka Jurecka, Agnieszka Różdżyńska-Świątkowska, Agata Migas-Majoch, Agnieszka Lembas, Beata Kieć-Wilk, Anna Tylki-Szymańska

published 29 Apr 2015

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Classification and Visualization Based on Derived Image Features: Application to Genetic Syndromes

Brunilda Balliu, Rolf P. Würtz, Bernhard Horsthemke, Dagmar Wieczorek, Stefan Böhringer

published 18 Nov 2014

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The Effect of Recombinant Human Iduronate-2-Sulfatase (Idursulfase) on Growth in Young Patients with Mucopolysaccharidosis Type II

Zbigniew Żuber, Agnieszka Różdżyńska-Świątkowska, Agnieszka Jurecka, Anna Tylki-Szymańska

published 13 Jan 2014

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The Prevalence of Nine Genetic Disorders in a Dog Population from Belgium, the Netherlands and Germany

Bart J. G. Broeckx, Frank Coopman, Geert E. C. Verhoeven, Wim Van Haeringen, Leanne van de Goor, Tim Bosmans, Ingrid Gielen, Jimmy H. Saunders, Sandra S. A. Soetaert, Henri Van Bree, Christophe Van Neste, Filip Van Nieuwerburgh, Bernadette Van Ryssen, Elien Verelst, Katleen Van Steendam, Dieter Deforce

published 19 Sep 2013

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