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Skeletal modifications in mucopolysaccharidoses: an overview
Vol 26, Issue 1, 2012
Abstract
The mucopolysaccharidoses (MPS) are a group of rare diseases characterized by deficiencies in different enzymes required for degradation of complex carbohydrates. The enzymatic deficiencies lead to lysosomal accumulation of dermatan sulphate, heparan sulphate, and keratan sulphate in different tissue resulting in multi-system complications. Six different principal types are described. Most MPS types, with the exception of MPS III, are associated with widespread skeletal abnormalities and joint disease. Authors analyzed clinical pathological and radiographical features of mucopolysaccharidoses focusing on pelvic and spine pathologies that generally limit activity and normal life so they have to be treated at the beginning of their manifestations in order to avoid major complication and improve quality of life.
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Copyright (c) 2012 L. Scaramuzzo, C. Perisano, A. Leone, C. Graci, M.S. Spinelli, G.Di Giacomo, E. Venanzi, A.Schiavone Panni, G. Maccauro
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Medical Genetics, University of Torino Medical School, Italy
Department of Biomedical, Surgical and Dental Sciences, University of Milan, Italy