Mitochondrial Diseases

Theory, Diagnosis and Therapy

Editors: Navas, Placido, Salviati, Leonardo (Eds.)

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  • 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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eBook 117,69 €
price for Spain (gross)
  • ISBN 978-3-030-70147-5
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Hardcover 145,59 €
price for Spain (gross)
  • ISBN 978-3-030-70146-8
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  • Usually ready to be dispatched within 3 to 5 business days, if in stock
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About this book

Mitochondrial diseases comprise a clinically and genetically heterogeneous group of rare disorders that may affect virtually any system of the body at any age. Due to their complexity, understanding and diagnosing these diseases requires a multidisciplinary approach.
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.

About the authors

Plácido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morré and F. L. Crane at Purdue University, Indiana. After a period of Associate Professor at the University of Cordoba, he became Professor of Cell Biology at the University Pablo de Olavide, Seville, principal investigator at the Centro de Investigación Biomédicaen Red (CIBER) of Rare Diseases, and he is the current Director of the Andalussian Center for Developmental Biology (CABD). His research has focused on the coenzyme Q homeostasis in respiratory chain and aging, and on the molecular diagnosis of coenzyme Q deficiency syndrome.
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.

Table of contents (11 chapters)

Table of contents (11 chapters)

Buy this book

eBook 117,69 €
price for Spain (gross)
  • ISBN 978-3-030-70147-5
  • Digitally watermarked, DRM-free
  • Included format: EPUB, PDF
  • ebooks can be used on all reading devices
  • Immediate eBook download after purchase
Hardcover 145,59 €
price for Spain (gross)
  • ISBN 978-3-030-70146-8
  • Free shipping for individuals worldwide
  • Institutional customers should get in touch with their account manager
  • Covid-19 shipping restrictions
  • Usually ready to be dispatched within 3 to 5 business days, if in stock
  • The final prices may differ from the prices shown due to specifics of VAT rules
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Bibliographic Information

Bibliographic Information
Book Title
Mitochondrial Diseases
Book Subtitle
Theory, Diagnosis and Therapy
Editors
  • Placido Navas
  • Leonardo Salviati
Copyright
2021
Publisher
Springer International Publishing
Copyright Holder
The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG
eBook ISBN
978-3-030-70147-5
DOI
10.1007/978-3-030-70147-5
Hardcover ISBN
978-3-030-70146-8
Edition Number
1
Number of Pages
VI, 305
Number of Illustrations
6 b/w illustrations, 23 illustrations in colour
Topics