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Mitochondrial diseases /

Mitochondrial Diseases, Volume 194 presents the most common clinical manifestations, providing an up-to-date summaries on the clinical presentations, diagnostic processes, genetic counseling and treatment options in mitochondrial diseases. Contents include specialist biochemical analyses and targete...

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Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Horvath, Rita, Hirano, Michio, Chinnery, Patrick F.
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier, 2023.
Colección:Handbook of clinical neurology ; v. 194.
Temas:
Acceso en línea:Texto completo
Tabla de Contenidos:
  • <P><b>Section I. Introduction to Mitochondrial Diseases</b> 1. Mitochondrial disease in neurology
  • Past, present, and future</p> <p><b>Section II. Most Common Neurological Manifestations of Mitochondrial Disease</b> 2. Progressive external ophthalmoplegia 3. Mitochondrial optic neuropathies 4. Leigh syndrome 5. Stroke-like episodes in adult mitochondrial disease 6. Ataxia and spastic paraplegia in mitochondrial disease 7. Peripheral neuropathy in mitochondrial disease 8. Complex neurological and multisystem presentations in mitochondrial disease</p> <p><b>Section III. Diagnosing Mitochondrial Disease</b> 9. Investigation of oxidative phosphorylation activity and composition in mitochondrial disease 10. Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis 11. Laboratory and metabolic investigations 12. Neuroimaging in mitochondrial disease</p> <p><b>Section IV. Therapy and Future Challenges</b> 13. Currently available therapies in mitochondrial disease 14. Reproductive options in mitochondrial disease 15. Clinical trials in mitochondrial disease 16. Blood biomarkers of mitochondrial disease
  • One for all or all for one? 17. Experimental therapy for mitochondrial diseases</p>