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Diagnosis and Management of Mitochondrial Disorders

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  • © 2019

Overview

  • Comprehensively presents the state-of-the-art in mitochondrial medicine

  • Pursues a translational approach, from basic science to clinical practice

  • Written by the world’s foremost mitochondrial researchers

  • Highlights the latest advances in the field of mitochondrial medicine

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Table of contents (23 chapters)

Keywords

About this book

This book will help readers navigate the complexity of mitochondrial disorders, by addressing the role of mitochondrial dysfunction and the complex pathophysiological mechanisms associated with a growing number of illnesses, not only of neurological interest. Further, it provides updated concepts on genotype-phenotype correlations, clinical syndromes, diagnostic algorithms and therapies. Written by the world’s foremost mitochondrial researchers, the book comprehensively presents the state-of-the-art in mitochondrial medicine, making it of interest to a wide variety of specialists, including neurologists, geneticists, internists and biologists.

Editors and Affiliations

  • Department of Clinical and Experimental Medicine, Neurological Institute, University of Pisa, Pisa, Italy

    Michelangelo Mancuso

  • Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-University of Munich, Munich, Germany

    Thomas Klopstock

About the editors


 

Dr. Mancuso is the head of the Centre of Clinical Neurogenetics  responsible for mitochondrial diseases and rare diseases at the Neurological Institute  of University of Pisa, Italy (Orphanet Center EUGTIT247621). He is actively involved in multiple projects mainly focusing on mitochondrial diseases. Dr. Mancuso is the Coordinator of the Italian Network of Mitochondrial Diseases, and is also a member of the International Consortium of Mitochondrial Diseases.

 

Dr. Klopstock is a Professor of Neurology and Consultant Physician, Friedrich-Baur-Institute, Dept. of Neurology, LMU Munich, Germany. He has extensive clinical and scientific expertise in mitochondrial and other neurogenetic disorders. He currently manages an outpatient clinic for neurogenetics, and is the coordinator of the German network for mitochondrial disorders (mitoNET), as well as a member of the International Consortium of Mitochondrial Diseases.


Bibliographic Information

  • Book Title: Diagnosis and Management of Mitochondrial Disorders

  • Editors: Michelangelo Mancuso, Thomas Klopstock

  • DOI: https://doi.org/10.1007/978-3-030-05517-2

  • Publisher: Springer Cham

  • eBook Packages: Medicine, Medicine (R0)

  • Copyright Information: Springer Nature Switzerland AG 2019

  • Hardcover ISBN: 978-3-030-05516-5Published: 16 May 2019

  • eBook ISBN: 978-3-030-05517-2Published: 03 May 2019

  • Edition Number: 1

  • Number of Pages: VIII, 382

  • Number of Illustrations: 33 b/w illustrations, 52 illustrations in colour

  • Topics: Neurology, Human Genetics, Internal Medicine

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