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Mendeley readers
| Title |
Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones
|
|---|---|
| Published in |
Orphanet Journal of Rare Diseases, July 2013
|
| DOI | 10.1186/1750-1172-8-111 |
| Pubmed ID | |
| Authors |
Marco Cammisa, Antonella Correra, Giuseppina Andreotti, Maria Vittoria Cubellis |
| Abstract |
Fabry_CEP is a user-friendly web-application designed to help clinicians Choose Eligible Patients for the therapy with pharmacological chaperones. It provides a database and a predictive tool to evaluate the responsiveness of lysosomal alpha-galactosidase mutants to a small molecule drug, namely 1-Deoxy-galactonojirimycin. The user can introduce any missense/nonsense mutation in the coding sequence, learn whether it is has been tested and gain access to appropriate reference literature. In the absence of experimental data structural, functional and evolutionary analysis provides a prediction and the probability that a given mutation is responsive to the drug. |
Mendeley readers
The data shown below were compiled from readership statistics for 30 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| Spain | 1 | 3% |
| Unknown | 29 | 97% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Student > Master | 5 | 17% |
| Researcher | 4 | 13% |
| Student > Ph. D. Student | 4 | 13% |
| Professor > Associate Professor | 3 | 10% |
| Other | 1 | 3% |
| Other | 3 | 10% |
| Unknown | 10 | 33% |
| Readers by discipline | Count | As % |
|---|---|---|
| Medicine and Dentistry | 9 | 30% |
| Biochemistry, Genetics and Molecular Biology | 5 | 17% |
| Pharmacology, Toxicology and Pharmaceutical Science | 2 | 7% |
| Agricultural and Biological Sciences | 2 | 7% |
| Unspecified | 1 | 3% |
| Other | 2 | 7% |
| Unknown | 9 | 30% |