Présentation des dernières connaissances épidémiologiques, biochimiques, génétiques, pathogénétiques et les aspects cliniques de quelques maladies lysosomales, ainsi que différentes options thérapeutiques. ©Electre 2024
Lysosomal Storage Diseases
Early Diagnosis and New Treatments
The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysosomal 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 lysosomal 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 presymptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, 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.
Paru le : 07/10/2010
Thématique : Pédiatrie
Auteur(s) : Non précisé.
Éditeur(s) :
John Libbey Eurotext
Collection(s) : Mariani Foundation paediatric neurology series
Contributeur(s) : Editeur scientifique (ou intellectuel) : Rossella Parini - Editeur scientifique (ou intellectuel) : Generoso Andria
Série(s) : Non précisé.
ISBN : 978-2-7420-0779-0
EAN13 : 9782742007790
Reliure : Relié
Pages : VI-184
Hauteur: 25.0 cm / Largeur 18.0 cm
Épaisseur: 1.9 cm
Poids: 535 g
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