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Titlebook: Diagnosis and Management of Mitochondrial Disorders; Michelangelo Mancuso,Thomas Klopstock Book 2019 Springer Nature Switzerland AG 2019 M

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书目名称Diagnosis and Management of Mitochondrial Disorders
编辑Michelangelo Mancuso,Thomas Klopstock
视频video
概述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 research
图书封面Titlebook: Diagnosis and Management of Mitochondrial Disorders;  Michelangelo Mancuso,Thomas Klopstock Book 2019 Springer Nature Switzerland AG 2019 M
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.
出版日期Book 2019
关键词Mitochondrial medicine; Genetics; Neurology; Multysistemc involvement; Biology; Therapy of mitochondrial
版次1
doihttps://doi.org/10.1007/978-3-030-05517-2
isbn_ebook978-3-030-05517-2
copyrightSpringer Nature Switzerland AG 2019
The information of publication is updating

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Maria Reichenbach,Robert S. Cohene of onset with a subacute and rapidly evolving course, whereas DOA has infantile onset and slow progression. Our understanding of pathogenic mechanisms has dramatically increased in the last decades and has led to the approval of idebenone in LHON, so far (as of 2018) the only approved treatment in
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Wirkungs- und Forschungsgeschichte,remains firmly within the realms of supportive care and health surveillance. However, advances in genetic diagnosis, a better understanding of the molecular pathophysiological processes at work and increasing interest from the pharmaceutical industry can only augur well for development of an effecti
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Stuttgart (1869–1891): Kindheit und Jugend, and site-specific point mutations. MNGIE can be readily diagnosed by the clinical phenotype with confirmation by identification of . mutations or by biochemical demonstration of decreased TP activity, elevated plasma thymidine and deoxyuridine, or both. Strategies to restore TP activity via alloge
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