- EAN13
- 9782742013432
- Éditeur
- John Libbey
- Date de publication
- 07/10/2010
- Langue
- anglais
- Fiches UNIMARC
- S'identifier
Lysosomal Storage Diseases
Early Diagnosis and New Treatments
Rossella Parini, Generoso Andria
John Libbey
Livre numérique
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Aide EAN13 : 9782742013432
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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.
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.
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