Skeletal modifications in mucopolysaccharidoses: an overview.

Antonio Leone, Giulio Maccauro, Laura Scaramuzzo, Carlo Perisano, Alfredo Schiavone Panni, C Graci, Ms Spinelli, G Di Giacomo, E Venanzi

Risultato della ricerca: Contributo in rivistaArticolo in rivistapeer review

3 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)139-144
Numero di pagine6
RivistaJOURNAL OF BIOLOGICAL REGULATORS & HOMEOSTATIC AGENTS
Volume2012
Stato di pubblicazionePubblicato - 2012

Keywords

  • mucopolysaccharidoses
  • spine

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