Gaucher disease and bone manifestations
Gaucher disease and bone manifestations
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.
gaucher disease, bone, biomarkers, enzyme replacement therapy, substrate reduction therapy, osteonecrosis
477-494
Marcucci, G.
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Zimran, A.
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Bembi, B.
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Kanis, J.
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Reginster, J.Y.
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Rizzoli, R.
2214fb77-8fb7-4c0b-bfc4-9f8d3cace5d7
Cooper, C.
e05f5612-b493-4273-9b71-9e0ce32bdad6
Brandi, M.L.
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December 2014
Marcucci, G.
17ac899b-5aa9-4e08-a023-04dbb626deb7
Zimran, A.
c2d36cdd-2ad5-4ab6-a64d-d3fc5b58ffb6
Bembi, B.
26904598-9931-43f0-8df1-c47b274da895
Kanis, J.
d8c75fae-089a-46ed-8c71-8690dd1a967b
Reginster, J.Y.
4083b457-5347-4ece-a53e-af19c8868c42
Rizzoli, R.
2214fb77-8fb7-4c0b-bfc4-9f8d3cace5d7
Cooper, C.
e05f5612-b493-4273-9b71-9e0ce32bdad6
Brandi, M.L.
4147f967-9c22-494d-ae35-c8141161413d
Marcucci, G., Zimran, A., Bembi, B., Kanis, J., Reginster, J.Y., Rizzoli, R., Cooper, C. and Brandi, M.L.
(2014)
Gaucher disease and bone manifestations.
Calcified Tissue International, 95 (6), .
(doi:10.1007/s00223-014-9923-y).
(PMID:25377906)
Abstract
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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Published date: December 2014
Keywords:
gaucher disease, bone, biomarkers, enzyme replacement therapy, substrate reduction therapy, osteonecrosis
Organisations:
Human Development & Health
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Local EPrints ID: 373829
URI: http://eprints.soton.ac.uk/id/eprint/373829
ISSN: 0171-967X
PURE UUID: 98658427-d1cf-4f38-9740-77f7e0ac01f2
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Date deposited: 02 Feb 2015 13:14
Last modified: 18 Mar 2024 02:45
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Contributors
Author:
G. Marcucci
Author:
A. Zimran
Author:
B. Bembi
Author:
J. Kanis
Author:
J.Y. Reginster
Author:
R. Rizzoli
Author:
M.L. Brandi
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