Natural history of alpha mannosidosis a longitudinal study

Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10191338" target="_blank" >RIV/00216208:11110/13:10191338 - isvavai.cz</a>
Result on the web
<a href="http://dx.doi.org/10.1186/1750-1172-8-88" target="_blank" >http://dx.doi.org/10.1186/1750-1172-8-88</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/1750-1172-8-88" target="_blank" >10.1186/1750-1172-8-88</a>

Result language
angličtina
Original language name
Natural history of alpha mannosidosis a longitudinal study
Original language description
Background: 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 orderto 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 to42 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. Methods: In this multicenter longitudinal study clinical data of 43 alpha-Mannosidosis patients were collected. In addition to objective clinical measurements biochemical assays were performed. Results: Data analysis revealed a wide
Czech name
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Czech description
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Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
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Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

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