Article (Scientific journals)
Gaucher Disease and Bone Manifestations
Marcucci, Gemma; Zimran, Ari; Bembi, Bruno et al.
2014In Calcified Tissue International, 95 (6), p. 477-494
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Abstract :
[en] 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.
Disciplines :
General & internal medicine
Author, co-author :
Marcucci, Gemma
Zimran, Ari
Bembi, Bruno
Kanis, John
Reginster, Jean-Yves  ;  Université de Liège - ULiège > Département des sciences de la santé publique > Santé publique, Epidémiologie et Economie de la santé
Rizzoli, Rene
Cooper, Cyrus
Brandi, Maria Luisa
Language :
English
Title :
Gaucher Disease and Bone Manifestations
Publication date :
2014
Journal title :
Calcified Tissue International
ISSN :
0171-967X
eISSN :
1432-0827
Publisher :
Springer, Germany
Volume :
95
Issue :
6
Pages :
477-494
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 17 November 2014

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