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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Bibliographische Detailangaben
Weitere Verfasser: Horvath, Rita (HerausgeberIn), Hirano, Michio (HerausgeberIn), Chinnery, Patrick F. (HerausgeberIn)
Format: UnknownFormat
Sprache:eng
Veröffentlicht: Amsterdam, Kidlington, Oxford, Cambridge, MA Elsevier 2023
Schriftenreihe:Handbook of clinical neurology volume 194 = 3rd series
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Beschreibung
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
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