Current Strategies for the Biochemical Diagnosis and Monitoring of Mitochondrial Disease PDF Download
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Author: Iain P. Hargreaves
Publisher: MDPI
ISBN: 3038972401
Category : Science
Languages : en
Pages : 239
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Book Description
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
Author: Iain P. Hargreaves
Publisher: MDPI
ISBN: 3038972401
Category : Science
Languages : en
Pages : 239
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Book Description
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
Author: Lawrence H. Lash
Publisher: Elsevier
ISBN: 1483218619
Category : Science
Languages : en
Pages : 527
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Book Description
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.
Author: Patrick F. Chinnery
Publisher: Cambridge University Press
ISBN: 0521132983
Category : Medical
Languages : en
Pages : 229
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Book Description
This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.
Author: Saskia Koene
Publisher:
ISBN: 9789081773706
Category :
Languages : en
Pages : 135
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Book Description
Author: National Academies of Sciences, Engineering, and Medicine
Publisher: National Academies Press
ISBN: 0309388708
Category : Medical
Languages : en
Pages : 201
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Book Description
Mitochondrial replacement techniques (MRTs) are designed to prevent the transmission of mitochondrial DNA (mtDNA) diseases from mother to child. While MRTs, if effective, could satisfy a desire of women seeking to have a genetically related child without the risk of passing on mtDNA disease, the technique raises significant ethical and social issues. It would create offspring who have genetic material from two women, something never sanctioned in humans, and would create mitochondrial changes that could be heritable (in female offspring), and therefore passed on in perpetuity. The manipulation would be performed on eggs or embryos, would affect every cell of the resulting individual, and once carried out this genetic manipulation is not reversible. Mitochondrial Replacement Techniques considers the implications of manipulating mitochondrial content both in children born to women as a result of participating in these studies and in descendants of any female offspring. This study examines the ethical and social issues related to MRTs, outlines principles that would provide a framework and foundation for oversight of MRTs, and develops recommendations to inform the Food and Drug Administration's consideration of investigational new drug applications.
Author: Nenad Blau
Publisher: Springer Science & Business Media
ISBN: 3540766987
Category : Medical
Languages : en
Pages : 860
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Book Description
This manual deals specifically with laboratory approaches to diagnosing inborn errors of metabolism. The key feature is that each chapter is sufficiently detailed so that any individual can adopt the described method into their own respective laboratory.
Author: Anthony Henry Vernon Schapira
Publisher: Butterworth-Heinemann
ISBN:
Category : Medical
Languages : en
Pages : 272
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Book Description
Mitochondrial Disorders in Neurology provides an overview of mitochondrial diseases. This book discusses the effects of mitochondrial dysfunction based on the relevant biochemistry and molecular genetics. The abnormal muscle and mitochondrial morphology in a variety of clinical presentations from isolated ophthalmoplegia to severe encephalopathy are also elaborated. This text likewise deliberates Leber's hereditary optic neuropathy, neurodegenerative disorders, and respiratory chain defects. Other topics covered include mitochondrial DNA and the genetics of mitochondrial disease; cytochrome ox ...
Author: Jaime M. Ross
Publisher: MDPI
ISBN: 3038422517
Category : Science
Languages : en
Pages : 543
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Book Description
This book is a printed edition of the Special Issue "Mitochondrial Dysfunction in Ageing and Diseases" that was published in IJMS
Author: Balan Louis Gaspar
Publisher: Springer
ISBN: 9811314624
Category : Medical
Languages : en
Pages : 305
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Book Description
This book covers all aspects of basic, essential, recent advances and controversies in myopathology. The major emphasis is on diagnostic myopathology of muscular dystrophies, inflammatory myopathies, mitochondrial myopathies, metabolic myopathies, congenital myopathies, myopathies of miscellaneous etiology, neurogenic and neuromuscular junction disorders, the goal being to broaden readers’ understanding of individual disease subgroups. The book also contains all the essential details needed to establish a neuromuscular lab, making it especially relevant for laboratory technical staff and research scholars.
Author: E. Gilbert-Barness
Publisher: IOS Press
ISBN: 1614997187
Category : Medical
Languages : en
Pages : 960
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Book Description
The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
