UID:
edoccha_9961017510902883
Umfang:
1 online resource (304 pages)
ISBN:
0-12-821761-8
Serie:
Handbook of Clinical Neurology ; Volume 194
Inhalt:
Mitochondrial Diseases 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 targeted molecular genetic testing, as well as first-line genome-wide sequencing to accelerate speed of diagnosis while avoiding time-consuming, expensive and invasive investigations. Establishing a genetic diagnosis allows patients with mitochondrial diseases to have reproductive options, all of which are covered within. This book is intended for neurologists to help them recognize and manage patients with mitochondrial diseases.
Anmerkung:
Section I. Introduction to Mitochondrial Diseases -- 1. Mitochondrial disease in neurology -- Past, present, and future -- Section II. Most Common Neurological Manifestations of Mitochondrial Disease -- 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 -- Section III. Diagnosing Mitochondrial Disease -- 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 -- Section IV. Therapy and Future Challenges -- 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.
Weitere Ausg.:
Print version: Horvath, Rita Mitochondrial Diseases San Diego : Elsevier,c2023 ISBN 9780128217511
Sprache:
Englisch
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