Journal
CALCIFIED TISSUE INTERNATIONAL
Volume 95, Issue 6, Pages 477-494Publisher
SPRINGER
DOI: 10.1007/s00223-014-9923-y
Keywords
Gaucher disease; Bone; Biomarkers; Enzyme replacement therapy; Substrate reduction therapy; Osteonecrosis
Categories
Funding
- F.I.R.M.O. Fondazione Raffaella Becagli, a no profit organization fully devoted to research in bone and mineral disorders
- Medical Research Council [MC_UU_12011/1, MC_UP_A620_1014, U1475000001, MC_U147585824] Funding Source: researchfish
- National Institute for Health Research [NF-SI-0508-10082, NF-SI-0513-10085] Funding Source: researchfish
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Gaucher disease is a relatively rare metabolic disease caused by the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Gaucher disease affects multiple organs, among which is the skeleton. Bone involvement occurs frequently in Gaucher disease, and is one of its most debilitating features, reducing the quality of life of patients. Bone status is an important consideration for treatment to ameliorate symptoms and reduce the risk of irreversible complications. We have conducted a systematic review of all the various aspects of Gaucher disease, focusing on different skeletal manifestations, pathophysiology of bone alterations, clinical symptoms, and current diagnostic and therapeutic approaches.
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