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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Weitere Verfasser: | , , |
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Format: | UnknownFormat |
Sprache: | eng |
Veröffentlicht: |
Amsterdam, Kidlington, Oxford, Cambridge, MA
Elsevier
2023
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Schriftenreihe: | Handbook of clinical neurology
volume 194 = 3rd series |
Schlagworte: | |
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Zusammenfassung: | 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 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 |
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Beschreibung: | Note bibliogr. en fin de chapitres. Index |
Beschreibung: | xviii, 283 Seiten Illustrationen, Diagramme 27 cm |
ISBN: | 9780128217511 978-0-12-821751-1 0128217510 0-12-821751-0 |