Lysosomal Storage Diseases

Name: Lysosomal Storage Diseases
Brand: John Libbey
SKU: 9782742013432
Price: 48.99 EUR
Availability: InStock
ISBN: 978-2-742-01343-2

Early Diagnosis and New Treatments

de Rossella Parini (auteur), Generoso Andria (auteur)

Maison d'édition : John Libbey

octobre 2010

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format 170 x 250 184 pages Téléchargement après achat

48,99 €

Résumé

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.

Sommaire

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