| Journal: | Genetics and molecular biology |
| Database: | PERIÓDICA |
| System number: | 000424589 |
| ISSN: | 1415-4757 |
| Authors: | Giugliani, Roberto1 Westwood, Stephanie2 Wellhoefer, Hartmann3 Schenk, Jörn3 Gurevich, Andrey3 Kampmann, Christoph4 |
| Institutions: | 1Universidade Federal do Rio Grande do Sul, Medical Genetics Service, Porto Alegre, Rio Grande do Sul. Brasil 2Cognite, Londres. Reino Unido 3Shire, Shire, Zug. Suiza 4Universitätsmedizin Mainz, Mainz, Rheinland-Pfalz. Alemania |
| Year: | 2018 |
| Season: | Dic |
| Volumen: | 41 |
| Number: | 4 |
| Pages: | 790-793 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Analítico, descriptivo |
| English abstract | Anderson-Fabry disease (AFD) is a rare lysosomal storage disorder. Randomized controlled clinical trials (RCTs)are preferred as the highest category of evidence, but limited availability of robust evidence in rare diseases may necessitate the use of less rigorous evidence. An analysis of cohort studies of enzyme replacement therapies for AFDpublished in 2017 by El Dib and coworkers made treatment recommendations that contradict previously publishedfindings from RCTs and a systematic Cochrane review. Our commentary outlines concerns regarding selection criteria and statistical methods with their analysis |
| Disciplines: | Medicina, Química |
| Keyword: | Terapéutica y rehabilitación, Genética, Bioquímica, Agalsidase alfa, Agalsidase beta, Enfermedad de Anderson-Fabry, Terapia de reemplazo enzimático |
| Keyword: | Therapeutics and rehabilitation, Genetics, Biochemistry, Agalsidase alfa, Agalsidase beta, Anderson-Fabry disease, Enzyme replacement therapy |
| Full text: | Texto completo (Ver PDF) |
