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Open Medicine

formerly Central European Journal of Medicine

Editor-in-Chief: Darzynkiewicz, Zbigniew

IMPACT FACTOR 2018: 1.221

CiteScore 2018: 1.01

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Source Normalized Impact per Paper (SNIP) 2018: 0.479

ICV 2017: 152.94

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Volume 7, Issue 2


Volume 10 (2015)

Musculoskeletal manifestations of mucopolysaccharidosis type VI and effects of enzyme replacement therapy

Jolanta Marucha
  • Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland
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/ Agnieszka Jurecka
  • Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland
  • Department of Molecular Biology, University of Gdańsk, Kładki 24, 80-822, Gdańsk, Poland
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/ Agnieszka Różdżyńska-Świątkowska
  • Anthropometry Laboratory, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland
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/ Anna Tylki-Szymańska
  • Department of Metabolic Diseases, The Children’s Memorial Health Institute, Al. Dzieci Polskich 20, 04-730, Warsaw, Poland
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Published Online: 2012-02-03 | DOI: https://doi.org/10.2478/s11536-012-0003-2


The aim of this study was to describe the musculoskeletal manifestations of mucopolysaccharidosis VI and to assess the effectiveness of enzyme replacement therapy (ERT) with recombinant human arylsulfatase B on the bone and joint involvement in a patient with a severe phenotype of the disease. Before the initiation of ERT, the patient presented with significant range of motion (ROM) limitations at multiple joints. Flexion contractures were noticeable in all joints. After 48 weeks of ERT, improvement in active and passive shoulder flexion, as well as passive elbow and wrist flexion, was noticed. ROM improvements were reflected in patient’s enhanced self-care.

Keywords: Mucopolysaccharidosis type V; Maroteaux-Lamy syndrome; Enzyme replacement therapy; Range of motion; Physical therapy; Anthropometric features; Growth retardation

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About the article

Published Online: 2012-02-03

Published in Print: 2012-04-01

Citation Information: Open Medicine, Volume 7, Issue 2, Pages 154–162, ISSN (Online) 2391-5463, DOI: https://doi.org/10.2478/s11536-012-0003-2.

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© 2012 Versita Warsaw. This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License. BY-NC-ND 3.0

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