ba0003lb3 | (1) | ECTS2014
Hald Jannie
, Langdahl Bente
, Evangelou Evangelos
, Ralston Stuart
Osteogenesis imperfecta refers to a group of inherited disorders characterised by increased bone fragility, low bone mass and fragility fractures. Most patients carry mutations in the genes that encode type I collagen or other proteins involved in its post-translational modification. Bisphosphonates are widely used in the treatment of osteogenesis imperfecta but clinical trials have been powered to detect effects on BMD rather than fracture. In order to gain better understandi...