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Journal of Inherited Metabolic Disease
Published in: Journal of Inherited Metabolic Disease 2/2013

Open Access 01-03-2013 | Original Article

Respiratory and sleep disorders in mucopolysaccharidosis

Authors: Kenneth I. Berger, Simone C. Fagondes, Roberto Giugliani, Karen A. Hardy, Kuo Sheng Lee, Ciarán McArdle, Maurizio Scarpa, Martin J. Tobin, Susan A. Ward, David M. Rapoport

Published in: Journal of Inherited Metabolic Disease | Issue 2/2013

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Abstract

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.
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Metadata
Title
Respiratory and sleep disorders in mucopolysaccharidosis
Authors
Kenneth I. Berger
Simone C. Fagondes
Roberto Giugliani
Karen A. Hardy
Kuo Sheng Lee
Ciarán McArdle
Maurizio Scarpa
Martin J. Tobin
Susan A. Ward
David M. Rapoport
Publication date
01-03-2013
Publisher
Springer Netherlands
Published in
Journal of Inherited Metabolic Disease / Issue 2/2013
Print ISSN: 0141-8955
Electronic ISSN: 1573-2665
DOI
https://doi.org/10.1007/s10545-012-9555-1

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