Lysosomal Storage Diseases

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  • Lysosomal Storage Diseases Book Detail

  • Author : Rossella Parini
  • Release Date : 2010-06-01
  • Publisher : John Libbey Eurotext
  • Genre : Medical
  • Pages : 195
  • ISBN 13 : 2742013431
  • File Size : 57,57 MB

Lysosomal Storage Diseases by Rossella Parini PDF Summary

Book Description: Over the past 15 years, great progress has been made in the research of lysosomal storage diseases. These incurable illnesses have gradually become illnesses for which treatments, or at the very least improvements, have become possible. In addition to stem cell transfusion, other therapeutic approaches have developed. The sooner the treatment is administered, the more effective it is. For this reason, it is essential for paediatricians, surgeons and neurologists to identify these illnesses from onset of the first signs and therefore, sound knowledge is important. The possibility of screening for lysosomal storage diseases during routine neonatal examination is also under consideration. The aim is also to improve the quality of life of patients via specialised centres in which multidisciplinary therapies may be implemented. This work presents the latest epidemiological, biochemical, genetic, and pathogenetic knowledge, the clinical aspects of these illnesses and the different therapeutic options.

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