Diagnosis And Management Of Mitochondrial Disorders
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Diagnosis And Management Of Mitochondrial Disorders
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Author : Michelangelo Mancuso
language : en
Publisher: Springer
Release Date : 2019-05-03
Diagnosis And Management Of Mitochondrial Disorders written by Michelangelo Mancuso and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019-05-03 with Medical categories.
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.
Diagnosis And Management Of Mitochondrial Disorders
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Author : Michelangelo Mancuso
language : en
Publisher:
Release Date : 2019
Diagnosis And Management Of Mitochondrial Disorders written by Michelangelo Mancuso and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2019 with Mitochondrial DNA categories.
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.
Mitochondrial Diseases
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Author : Placido Navas
language : en
Publisher: Springer Nature
Release Date : 2021-07-30
Mitochondrial Diseases written by Placido Navas and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2021-07-30 with Medical categories.
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.
Mitochondrial Case Studies
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Author : Russell Saneto
language : en
Publisher: Academic Press
Release Date : 2015-11-24
Mitochondrial Case Studies written by Russell Saneto and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-11-24 with Science categories.
Mitochondrial Case Studies: Underlying Mechanisms and Diagnosis offers the science behind mitochondrial disease with a case studies approach. Since mitochondrial diseases are diverse and influenced by genetic, environmental, and social-economic factors, this publication will help students, physicians, scientists, health care students, and families recognize and accurately diagnose mitochondrial disease and learn about potential treatments. Reviews case studies as a helpful teaching tool to increase awareness and improve diagnosis Provides information on underlying mechanisms of mitochondrial disease Includes basic mitochondrial dysfunction research through patient case studies to best illustrate the entire disease process
Peeking At Mitochondrial Disease History Causes Mechanisms Diagnosis Management Etc A Concise Review
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Author : Dr. Hakim. K. Saboowala
language : en
Publisher: Dr.Hakim Saboowala
Release Date :
Peeking At Mitochondrial Disease History Causes Mechanisms Diagnosis Management Etc A Concise Review written by Dr. Hakim. K. Saboowala and has been published by Dr.Hakim Saboowala this book supported file pdf, txt, epub, kindle and other format this book has been release on with Medical categories.
Peeking at Mitochondrial disease: History, Causes, Mechanisms, Diagnosis, Management etc. A Concise Review. Mitochondrial diseases are a heterogeneous group of disorders that can affect multiple organs with varying severity. It is a challenging area of genetics because two distinct genomes can contribute to disease pathogenesis. It is also challenging clinically because of the myriad of different symptoms and, until recently, a lack of a genetic diagnosis in many patients. The last five years has brought remarkable progress in this area. The unique character of mitochondrial genetics means family history patterns of inheritance may be both maternal and autosomal, making genetic counselling challenging. Tissue specificity and mitochondrial heteroplasmy may result in a spectrum of phenotypes even within a single family with the same molecular defect. An attempt has been made in this Booklet to describe the Origin, History, Causes, Mechanisms, Diagnosis, Management etc. along with plenty of relevant ILLUSTRATIONS for better understanding of enthusiastic medicos! …Dr. H. K. Saboowala. M.B.(Bom) .M.R.S.H.(London)
Clinical Mitochondrial Medicine
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Author : Patrick F. Chinnery
language : en
Publisher: Cambridge University Press
Release Date : 2018-05-17
Clinical Mitochondrial Medicine written by Patrick F. Chinnery and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-05-17 with Medical categories.
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Mitochondrial Disorders
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Author : Claude Desnuelle
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-12-01
Mitochondrial Disorders written by Claude Desnuelle and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-12-01 with Medical categories.
The concept of mitochondrial diseases originated in 1962 with the description by Luft and coworkers of a patient with nonthyroidal hypermetabolism due to loose coupling of oxidation and phosphorylation in muscle mitochondria. Over the following quarter of a century, thanks to W. King Engel's "ragged-red fibres" as convenient markers for mitochondrial pathology, numerous papers described clinical, morphological, and biochemical features of "mitochondrial myopathies." In 1988 the discovery of mutations in mitochondrial DNA led to an explosive expansion of research into mitochondrial disorders. Throughout the 1990s the rapid identification of multiple mitochondrial gene defects associated with clinically diverse disorders has left practitioners puzzled about diagnosing such heterogeneous and complex syndromes. Through updated data, this book discusses now what Luft aptly called "mitochondrial medicine." In so doing, it considers the pivotal role of mitochondria in drug sensitivity, their key roles in ageing, apoptosis, and neurodegeneration along with primary mitochondrial diseases due to mutations in the nuclear genome, in the mitochondrial genome, or in the cross-talk between the two genomes.
Mitochondrial Dysfunction
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Author : Lawrence H. Lash
language : en
Publisher: Elsevier
Release Date : 2013-10-22
Mitochondrial Dysfunction written by Lawrence H. Lash and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-22 with Science categories.
Methods in Toxicology, Volume 2: Mitochondrial Dysfunction provides a source of methods, techniques, and experimental approaches for studying the role of abnormal mitochondrial function in cell injury. The book discusses the methods for the preparation and basic functional assessment of mitochondria from liver, kidney, muscle, and brain; the methods for assessing mitochondrial dysfunction in vivo and in intact organs; and the structural aspects of mitochondrial dysfunction are addressed. The text also describes chemical detoxification and metabolism as well as specific metabolic reactions that are especially important targets or indicators of damage. The methods for measurement of alterations in fatty acid and phospholipid metabolism and for the analysis and manipulation of oxidative injury and antioxidant systems are also considered. The book further tackles additional methods on mitochondrial energetics and transport processes; approaches for assessing impaired function of mitochondria; and genetic and developmental aspects of mitochondrial disease and toxicology. The text also looks into mitochondrial DNA synthesis, covalent binding to mitochondrial DNA, DNA repair, and mitochondrial dysfunction in the context of developing individuals and cellular differentiation. Microbiologists, toxicologists, biochemists, and molecular pharmacologists will find the book invaluable.
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease
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Author : Iain P. Hargreaves
language : en
Publisher: MDPI
Release Date : 2018-10-16
Current Strategies For The Biochemical Diagnosis And Monitoring Of Mitochondrial Disease written by Iain P. Hargreaves and has been published by MDPI this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-10-16 with Electronic books categories.
This book is a printed edition of the Special Issue "Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease" that was published in JCM
Mitochondrial Medicine
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Author : Saskia Koene
language : en
Publisher:
Release Date : 2011
Mitochondrial Medicine written by Saskia Koene and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011 with categories.