Tous nos rayons

Déjà client ? Identifiez-vous

Nouveau client ?

CRÉER VOTRE COMPTE
Votre panier contient 0 article
0,00 €
Lysosomal Storage Diseases

Librairie Eyrolles - Paris 5e
Indisponible

Lysosomal Storage Diseases

Lysosomal Storage Diseases

Early Diagnosis and New Treatments

- Collection Mariani Foudation Paediatric Neurology

184 pages, parution le 07/10/2010

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
Voir tout
Replier

Caractéristiques techniques du livre "Lysosomal Storage Diseases"

  PAPIER
Éditeur(s) John Libbey
Auteur(s) Rossella Parini, Generoso Andria
Collection Mariani Foudation Paediatric Neurology
Parution 07/10/2010
Nb. de pages 184
Format 17 x 25
Couverture Relié
Poids 535g
Intérieur Noir et Blanc
EAN13 9782742007790
ISBN13 978-2-7420-0779-0

Avantages Eyrolles.com

Livraison à partir de 0,01 en France métropolitaine (1)

Paiement en ligne SÉCURISÉ

Livraison dans le monde

Retour sous 15 jours

+ de 700 000 livres disponibles

satisfait ou remboursé
Satisfait ou remboursé
Paiement sécurisé
modes de paiement
Paiement à l'expédition
partout dans le monde
Livraison partout dans le monde
Service clients 0 321 79 56 75 sav@commande.eyrolles.com
librairie française
Librairie française depuis 1925