Title |
Respiratory and sleep disorders in mucopolysaccharidosis
|
---|---|
Published in |
Journal of Inherited Metabolic Disease, November 2012
|
DOI | 10.1007/s10545-012-9555-1 |
Pubmed ID | |
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 |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 33% |
Spain | 1 | 33% |
Unknown | 1 | 33% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 3 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 2 | 2% |
Germany | 1 | <1% |
Brazil | 1 | <1% |
Unknown | 108 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 12 | 11% |
Researcher | 12 | 11% |
Student > Bachelor | 12 | 11% |
Student > Ph. D. Student | 11 | 10% |
Student > Master | 11 | 10% |
Other | 24 | 21% |
Unknown | 30 | 27% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 50 | 45% |
Biochemistry, Genetics and Molecular Biology | 8 | 7% |
Nursing and Health Professions | 6 | 5% |
Agricultural and Biological Sciences | 3 | 3% |
Computer Science | 2 | 2% |
Other | 10 | 9% |
Unknown | 33 | 29% |