OSTEOGENESIS IMPERFECTA
- Authors: Farkhutdlnova L.1
-
Affiliations:
- Issue: Vol 28, No 8 (2017)
- Pages: 6-8
- Section: Articles
- URL: https://journals.eco-vector.com/0236-3054/article/view/116881
- ID: 116881
Cite item
Open Access
Access granted
Abstract
The paper summarizes an update on the etiology and pathogenesis, clinical symptoms, diagnosis, and treatment of one of the orphan diseases - osteogenesis imperfecta.
Full Text
About the authors
L. Farkhutdlnova
Email: farkhutdinova@gmail.com
Professor MD Bashkir State Medical University Ufa
References
- Руководство по детской эндокринологии. Под ред. Ч. Брука, Р. Браун. Пер. с англ. под ред. В.А. Петерковой / М.: ГЭОТАР-Медиа, 2009; 352 с.
- Эндокринология. Национальное руководство. Под ред. И.И. Дедова, Г.А. Мельниченко / М.: ГЭОТАР-Медиа, 2016; 1112 с.
- Renaud A., Aucourt J., Weill J. et al. Radiographic features of osteogenesis imperfect // Insights Imaging. - 2013; 4 (4): 417-29.
- Van Dijk F., Byers P., Dalgleish R. et al. EMQN best practice guidelines for the laboratory diagnosis of Osteogenesis Imperfecta // Eur. J. Hum. Genet. - 2012; 20: 11-9.
- Forlino A., Cabral W., Barnes A. et al. New perspectives on osteogenesis imperfect // Nat. Rev. Endocrinol. - 2011; 7: 540-57.
Supplementary files
