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Lysosomal storage diseases : early diagnosis and new treatments /
| Clasificación: | Libro Electrónico |
|---|---|
| Otros Autores: | , |
| Formato: | Electrónico eBook |
| Idioma: | Inglés |
| Publicado: |
Montrouge :
John Libbey Eurotext,
[2010]
|
| Colección: | Mariani Foundation paediatric neurology series ;
23. |
| Temas: | |
| Acceso en línea: | Texto completo |
Tabla de Contenidos:
- Lysosomal Storage Diseases Early Diagnosis and New Treatments; Contents; General aspects; Chapter 1 Lysosomal storage disorders: commonalities and differences; Chapter 2 Lysosomal storage disorders-epidemiology, biochemistry, and genetics: how to read and interpret biochemical and molecular tests; Chapter 3 Organizational and ethical aspects of newborn screening for lysosomal storage diseases; Chapter 4 Pathophysiologic aspects of lysosomal storage disorders; Clinical presentations in detail: Mucopolysaccharidoses and Anderson-Fabry disease.
- Chapter 5 Early signs and symptoms for the timely diagnosis of mucopolysaccharidosisChapter 6 Anderson-Fabry disease in children; Mucopolysaccharidoses from the specialists' point of view; Chapter 7 Epilepsy in mucopolysaccharidosis: clinical features and outcome; Chapter 8 Psychological assessment and support for patients with mucopolysaccharidosis; Chapter 9 Mucopolysaccharidosis: radiologic findings; Chapter 10 Anaesthesia for children with mucopolysaccharidosis; Chapter 11 Neurosurgical complications and their management in mucopolysaccharidosis.
- Specific treatments for lysosomal storage diseasesChapter 12 Enzyme replacement therapy in lysosomal storage disorders: clinical effects and limitations; Chapter 13 Gaucher disease: clinical follow-up and management with individualized treatment; Chapter 14 Enzyme replacement therapy in glycogenosis type II; Chapter 15 Haematopoietic stem cell transplantation for lysosomal storage diseases; Chapter 16 Allogeneic stem cell transplantation for Hurler syndrome: graft outcome and long-term clinical outcomes; Chapter 17 Haematopoietic stem cell gene therapy for metachromatic leukodystrophy.