Title |
Natural history of alpha mannosidosis a longitudinal study
|
---|---|
Published in |
Orphanet Journal of Rare Diseases, June 2013
|
DOI | 10.1186/1750-1172-8-88 |
Pubmed ID | |
Authors |
Michael Beck, Klaus J Olsen, James E Wraith, Jiri Zeman, Jean-Claude Michalski, Paul Saftig, Jens Fogh, Dag Malm |
Abstract |
Alpha-Mannosidosis is a rare lysosomal storage disorder, caused by the deficiency of the enzyme alpha-Mannosidase. Clinically it is characterized by hearing impairment, skeletal and neurological abnormalities and mental retardation. In order to characterize the clinical features and disease progression of patients affected by alpha-Mannosidosis, a survey study was conducted. 43 patients from 4 European countries participated in this longitudinal study. Age range of the participants was 3 to 42 years. For each patient a medical history, complete physical and neurological examination, joint range of motion and assessment of physical endurance and of lung function were completed. In addition, serum and urinary oligosaccharide levels were analysed. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
Mexico | 1 | 50% |
Unknown | 1 | 50% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 1 | 50% |
Scientists | 1 | 50% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 75 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Master | 11 | 15% |
Student > Bachelor | 8 | 11% |
Other | 7 | 9% |
Student > Ph. D. Student | 6 | 8% |
Student > Doctoral Student | 4 | 5% |
Other | 12 | 16% |
Unknown | 27 | 36% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 20 | 27% |
Psychology | 5 | 7% |
Nursing and Health Professions | 4 | 5% |
Sports and Recreations | 3 | 4% |
Environmental Science | 3 | 4% |
Other | 10 | 13% |
Unknown | 30 | 40% |