Overview
Presents multidisciplinary understanding of mitochondrial diseases
Provides essential tool to biomedical and clinical approach to mitochondrial diseases
Includes contributions from worldwide experts
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Table of contents (11 chapters)
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Front Matter
Keywords
About this book
This book provides an update on the major features of human mitochondrial diseases: genetic bases, pathophysiology, diagnosis, and treatment, and of the new technologies involved in the diagnosis and on the characterization of patients. The 11 chapters examine the unique complex interactions between the mitochondrial and the nuclear genomes involved in the biogenesis and the regulation of the mitochondrial respiratory chain, and their relevance to human disease. We discuss the traditional biochemical and genetic approaches, as well as the new omic technologies, and the cellular and animal models used in mitochondrial research. The last chapter is dedicated to the current treatment options.
Authors are worldwide experts in these fields and integrate expertise in both basic science and clinical research.
This book is particularly important for both scientists and clinicians interested in the diagnosis and treatment of these diseases.
Editors and Affiliations
About the editors
Leonardo Salviati obtained his MD and PhD degrees at the University of Padova in Italy. After a postdoctoral fellowship in the labs of Salvatore Di Mauro and Eric Schon at Columbia University in New York, he was recruited by the department of Pediatrics of the University of Padova, where he is currently professor of Medical Genetics, and director of the Clinical Genetics Unit and of the Medical Genetics Residency Program. His research has focused on mitochondrial disorders, with a particular focus on coenzyme Q deficiency.
Bibliographic Information
Book Title: Mitochondrial Diseases
Book Subtitle: Theory, Diagnosis and Therapy
Editors: Placido Navas, Leonardo Salviati
DOI: https://doi.org/10.1007/978-3-030-70147-5
Publisher: Springer Cham
eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)
Copyright Information: The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2021
Hardcover ISBN: 978-3-030-70146-8Published: 31 July 2021
Softcover ISBN: 978-3-030-70149-9Published: 31 July 2022
eBook ISBN: 978-3-030-70147-5Published: 30 July 2021
Edition Number: 1
Number of Pages: VI, 305
Number of Illustrations: 6 b/w illustrations, 23 illustrations in colour
Topics: Biomedicine, general, Medicine/Public Health, general, Genetics and Genomics, Biochemistry, general, Neurosciences