ba0003pp166 | Cell biology: osteoclasts and bone resorption | ECTS2014
Nijjar Sarbjit
, Gittoes Neil
, Geberhiwot Tarekegn
Gauchers disease is a glycolipid storage disorder caused by an autosomally inherited deficiency of the lysosomal enzyme glucocerebrosidase. The majority of patients with Gauchers disease develop abnormal bone remodelling with severe consequences, including osteonecrosis, bone crises, and osteoporosis related fractures. Although enzyme replacement therapy is effective at reversing many of the pathological consequences, and preventing further progression of this dise...