Fabry disease perspectives from 5 years of FOS
Published to commemorate the first 5 years of the Fabry Outome Survey, this volume brings together contributions from leading experts in the field of lysosomal storage diseases (LSDs) in general and Fabry disease in particular in a single state-of-the-art publication. The first section covers genera...
| Otros Autores: | |
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| Formato: | Libro electrónico |
| Idioma: | Inglés |
| Publicado: |
Oxford :
PharmaGenesis
2006.
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| Materias: | |
| Ver en Biblioteca Universitat Ramon Llull: | https://discovery.url.edu/permalink/34CSUC_URL/1im36ta/alma991009816715006719 |
Tabla de Contenidos:
- Section 1. General aspects of lysosomal storage diseases
- 1. History of lysosomal storage diseases: an overview
- 2. Epidemiology of lysosomal storage diseases: an overview
- 3. Physiology of the lysosome
- 4. Cellular pathophysiology of lysosomal storage diseases
- 5. Importance of glycosylation in enzyme replacement therapy
- 6. Animal models of lysosomal storage diseases: their development and clinical relevance
- 7. General aspects of X-linked diseases
- 8. Laboratory diagnosis of lysosomal storage diseases
- 9. Biomarkers in lysosomal storage diseases
- 10. Enzyme replacement therapy - a brief history
- 11. Regulatory framework for the treatment of orphan diseases
- 12. Role of patient support groups in lysosomal storage diseases
- 13. The patient's perspective of Fabry disease - a report from the German Fabry Patient Support Group
- Section 2. Development of FOS - the Fabry Outcome Survey
- 14. Formal trials versus observational studies
- 15. Organization and technical aspects of FOS - the Fabry Outcome Survey
- Section 3. Fabry disease: clinical features and natural course
- 16. Demographics of FOS - the Fabry Outcome Survey
- 17. Diagnosis of Fabry disease: the role of screening and case-finding studies
- 18. Biochemical and genetic diagnosis of Fabry disease
- 19. Natural history of Fabry disease
- 20. The heart in Fabry disease
- 21. Renal manifestations of Fabry disease
- 22. Neurological manifestations of Fabry disease
- 23. Nervous system manifestations of Fabry disease: data from FOS - the Fabry Outcome Survey
- 24. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy
- 25. Fabry disease and the ear
- 26. Ophthalmological manifestations of Fabry disease
- 27. Pulmonary involvement in Fabry disease
- 28. Gastrointestinal manifestations of Fabry disease
- 29. Neuropsychiatric and psychosocial aspects of Fabry disease
- 30. Fabry disease in females: clinical characteristics and effects of enzyme replacement therapy
- 31. Natural history and effects of enzyme replacement therapy in children and adolescents with Fabry disease
- 32. Measurement of disease severity and progression in Fabry disease
- 33. The genetic basis of Fabry disease
- 34. Genotype-phenotype correlation in Fabry disease
- Section 4. Selected aspects of the clinical management of Fabry disease
- 35. A multidisciplinary approach to the care of patients with Fabry disease
- 36. Development of enzyme replacement therapy for Fabry disease
- 37. Enzyme replacement therapy and the heart
- 38. Effect of enzyme replacement therapy with agalsidase alfa on renal function in patients with Fabry disease: data from FOS - the Fabry Outcome Survey
- 39. Neurological effects of enzyme replacement therapy in Fabry disease
- 40. Effects of enzyme replacement therapy on pain and overall quality of life
- 41. Safety of enzyme replacement therapy
- 42. Monitoring and follow-up of patients
- 43. Possible future therapies for Fabry disease
- 44. Concluding remarks.
