Diagnosis and Management of Mitochondrial Disorders
暫譯: 線粒體疾病的診斷與管理

Mancuso, Michelangelo, Klopstock, Thomas

Diagnosis and Management of Mitochondrial Disorders
  • 出版商: Springer
  • 出版日期: 2019-05-16
  • 售價: $5,910
  • 貴賓價: 9.5 折 $5,615
  • 語言: 英文
  • 頁數: 382
  • 裝訂: Hardcover - also called cloth, retail trade, or trade
  • ISBN: 3030055167
  • ISBN-13: 9783030055165

    • 海外代購書籍(需單獨結帳)

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商品描述

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.

商品描述(中文翻譯)

本書將幫助讀者了解線粒體疾病的複雜性，探討線粒體功能障礙的角色以及與越來越多疾病相關的複雜病理生理機制，這些疾病不僅限於神經學領域。此外，本書提供了有關基因型-表型相關性、臨床綜合症、診斷算法和治療的最新概念。由全球最頂尖的線粒體研究者撰寫，本書全面呈現線粒體醫學的最新進展，對包括神經科醫生、遺傳學家、內科醫生和生物學家在內的各類專家均具有吸引力。

作者簡介


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.

作者簡介(中文翻譯)

曼庫索博士是義大利比薩大學神經學研究所臨床神經遺傳學中心的負責人，專注於線粒體疾病和罕見疾病（Orphanet Center EUGTIT247621）。他積極參與多個專案，主要聚焦於線粒體疾病。曼庫索博士是義大利線粒體疾病網絡的協調者，同時也是國際線粒體疾病聯盟的成員。

克洛普斯托克博士是德國慕尼黑大學弗里德里希·鮑爾研究所神經學教授及顧問醫師。他在線粒體及其他神經遺傳疾病方面擁有廣泛的臨床和科學專業知識。目前，他管理一個神經遺傳學的門診診所，並且是德國線粒體疾病網絡（mitoNET）的協調者，同時也是國際線粒體疾病聯盟的成員。

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