The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysoso-mal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysoso-mal storage diseases, other therapeutic approaches are being developed that are based on different principles.

The awareness that the efficacy of treatment is greater if administered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheuma-tologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion.

This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialized centre is emphasized in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.


  • Lysosomal storage disorders: commonalities and differences
  • Lysosomal Storage Disorders: epidemiology, biochemistry and genetic aspects. How to read and interpret biochemical and molecular tests
  • Practical and ethical aspects of lysosomal storage disease screening in Europe
  • Pathophysiology of lysosomal storage disorders
  • The early signs and symptoms for the diagnosis of mucopolysaccharidoses
  • Anderson-Fabry disease in children
  • Clinical Features and Outcome of Epilepsy in Mucopolysaccharidoses
  • Psychological assessment and psychological support for patients with the mucopolysaccharidoses
  • MPS: radiological findings
  • Anaesthesia for children with MPS
  • Neurosurgical complications and their management in mucopolysaccharidoses
  • Enzyme replacement therapy in lysosomal storage disorders: clinical effects and limitations
  • Gaucher disease: clinical follow-up and management with individualized treatment
  • Enzyme replacement therapy in glycogenosis type II
  • Haematopoietic stem cell transplantation for lysosomal storage diseases
  • Allogeneic stem cell transplantation for Hurler syndrome: graft outcome and long-term clinical outcomes
  • Hematopoietic stem cell gene therapy for metachromatic leukodystrophy


Editeur : John Libbey

Auteur(s) : Rossella Parini, Generoso Andria

Publication : 7 octobre 2010

Edition : 1ère édition

Intérieur : Noir & blanc

Support(s) : eBook [PDF]

Contenu(s) : PDF

Protection(s) : Marquage social (PDF)

Taille(s) : 1,8 Mo (PDF)

Langue(s) : Anglais

Code(s) CLIL : 3165

EAN13 eBook [PDF] : 9782742013432

EAN13 (papier) : 9782742007790

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