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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release : 01 May 2020
GET THIS BOOKMitochondrial Disease Genes Compendium

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual's disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (MSeqDR),

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Mitochondrial Disease Genes Compendium

Mitochondrial Disease Genes Compendium
  • Author : Marni J. Falk
  • Publisher : Academic Press
  • Release : 28 April 2020
GET THIS BOOKMitochondrial Disease Genes Compendium

The field of Mitochondrial Medicine has been dominated by symptom constellation-based diagnostic categorization since the first clinical syndrome was described three decades ago. Now, as rapidly expanding knowledge has revealed that mitochondrial diseases may result from several hundred distinct gene disorders with extensive clinical and mutation heterogeneity, the most useful guide for clinical care and research embraces a gene-centric approach to each individual’s disorder. Together with international colleagues, Dr. Marni Falk has developed the Mitochondrial Disease Sequence Data Resource (

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Diagnosis and Management of Mitochondrial Disorders

Diagnosis and Management of Mitochondrial Disorders
  • Author : Michelangelo Mancuso,Thomas Klopstock
  • Publisher : Springer
  • Release : 03 May 2019
GET THIS BOOKDiagnosis and Management of Mitochondrial Disorders

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

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Mitochondrial Diseases

Mitochondrial Diseases
  • Author : Eylem Taskin,Celal Guven,Yusuf Sevgiler
  • Publisher : BoD – Books on Demand
  • Release : 29 August 2018
GET THIS BOOKMitochondrial Diseases

Mitochondria are crucial organelles for any cell type. Mitochondria take responsibility for not only energy production but also regulation of cell death, also called apoptosis; calcium storage; and heat production. Therefore, mitochondrial disease is implicated in the mode of action of many harmful factors for cells such as drugs and environmental contaminants, dysfunction of the oxygen transport system, malnutrition, intense exercise, and genetic variations. This book presents up-to-date knowledge about mitochondrial disease and its complex relation to some diseases such

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Mitochondrial Medicine

Mitochondrial Medicine
  • Author : Salvatore DiMauro,Michio Hirano,Eric A. Schon
  • Publisher : CRC Press
  • Release : 26 November 2019
GET THIS BOOKMitochondrial Medicine

Mitochondrial dysfunction is increasingly being recognized as the basis of a wide variety of human diseases. Providing an authoritative update on our current knowledge of mitochondrial medicine, this text draws together world authorities from various fields to present general therapeutic strategies, as well as the treatments presently available in different specialties - thus making it essential reading for clinicians involved with the management of patients with mitochondrial diseases. A unique work, this text covers a range of specialties, including cardiology,

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Mitochondrial DNA

Mitochondrial DNA
  • Author : Herve Seligmann,Ganesh Warthi
  • Publisher : BoD – Books on Demand
  • Release : 31 October 2018
GET THIS BOOKMitochondrial DNA

The very short genomes of mitochondria summarize the complexity of molecular biology and its interactions with cellular and whole organism biology. Studies of mitogenomes contribute to the understanding of molecular biology and evolution, and to health management. Despite or even due to their small sizes, mitogenomes continue to surprise us. Studies of mitogenomes reveal the details of molecular organization and its evolution under constraints for miniaturization.

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The ABC Transporters of Human Physiology and Disease

The ABC Transporters of Human Physiology and Disease
  • Author : Kenneth J. Linton,I. B. Holland
  • Publisher : World Scientific
  • Release : 17 October 2021
GET THIS BOOKThe ABC Transporters of Human Physiology and Disease

ATP Binding Cassette (ABC) transporters are a family of integral membrane proteins that are likely to be represented in all the cells of all species of archaea, eubacteria and eukaryota. The vast majority of these proteins control the transport of molecules (from small hydrophilic ions to lipids and proteins) across cellular membranes. The human genome encodes 48 ABC transporters and most have been shown to underlie one or more human diseases. This book that brings together state-of-the-art knowledge on proteins in

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Cardiovascular Genetics and Genomics

Cardiovascular Genetics and Genomics
  • Author : Dhavendra Kumar,Perry Elliott
  • Publisher : Springer
  • Release : 17 January 2018
GET THIS BOOKCardiovascular Genetics and Genomics

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on

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Mitochondrial Disorders Caused by Nuclear Genes

Mitochondrial Disorders Caused by Nuclear Genes
  • Author : Lee-Jun C. Wong
  • Publisher : Springer Science & Business Media
  • Release : 18 September 2012
GET THIS BOOKMitochondrial Disorders Caused by Nuclear Genes

Mitochondrial cytopathies are mutations in the inherited maternal mitochondrial genome, or the nuclear DNA-mutation. Mitochondrial respiratory chain disorders (RCD) are a group of genetically and clinically heterogeneous diseases, due to the fact that protein components of the respiratory chain are encoded by both mitochondrial and nuclear genomes and are essential in all cells. In addition, the biogenesis, structure and function of mitochondria, including DNA replication, transcription, and translation, all require nuclear encoded genes. Since mitochondria are present in every cell,

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Complementary Therapies for the Body, Mind and Soul

Complementary Therapies for the Body, Mind and Soul
  • Author : Marcelo Saad
  • Publisher : BoD – Books on Demand
  • Release : 02 September 2015
GET THIS BOOKComplementary Therapies for the Body, Mind and Soul

Complementary Therapies (CT) refers to the practices, products, or health systems that are outside the realm of conventional medicine, used to treat disease or to promote health and well-being. Defining CT is difficult, because the field is very broad and constantly changing. The title of this book includes the words body, mind, and soul. The body and the mind (and their reciprocal relations) have been extensively studied scientifically. What about the soul? The book brings some points about this new

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Mitochondrial Parts, Pathways, and Pathogenesis

Mitochondrial Parts, Pathways, and Pathogenesis
  • Author : Sarah E. Calvo,Harvard University--MIT Division of Health Sciences and Technology
  • Publisher : Anonim
  • Release : 17 October 2021
GET THIS BOOKMitochondrial Parts, Pathways, and Pathogenesis

Mitochondria are cellular compartments that perform essential roles in energy metabolism, ion homeostasis, and apoptosis. Mitochondrial dysfunction causes disease in 1 in 5,000 live births and also has been associated with aging, neurodegeneration, cancer, and diabetes. To systematically explore the function of mitochondria in health and in disease, it is necessary to identify all of the proteins resident in this organelle and to understand how they integrate into pathways. However, traditional molecular and biochemistry methods have identified only half of the estimated 1200

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Gigantism and Acromegaly

Gigantism and Acromegaly
  • Author : Constantine A. Stratakis
  • Publisher : Academic Press
  • Release : 08 June 2021
GET THIS BOOKGigantism and Acromegaly

Gigantism and Acromegaly brings together pituitary experts, taking readers from bench research, to genetic analysis, clinical analysis, and new therapeutic approaches. This book serves as a reference for growth hormone over-secretion and its diagnosis and treatment for endocrinologists, pediatricians, internists, and neurosurgeons, and for geneticists. Pharmaceutical companies may use it as a reference for drug development and research. Students, residents and fellows in medicine and endocrinology and genetics will also find it valuable as it provides a single up-to-date review

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The Grape Genome

The Grape Genome
  • Author : Dario Cantu,M. Andrew Walker
  • Publisher : Springer Nature
  • Release : 13 November 2019
GET THIS BOOKThe Grape Genome

This book describes the current state of international grape genomics, with a focus on the latest findings, tools and strategies employed in genome sequencing and analysis, and genetic mapping of important agronomic traits. It also discusses how these are having a direct impact on outcomes for grape breeders and the international grape research community. While V. vinifera is a model species, it is not always appreciated that its cultivation usually requires the use of other Vitis species as rootstocks. The

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Inherited Metabolic Diseases

Inherited Metabolic Diseases
  • Author : Georg F. Hoffmann,Johannes Zschocke,William L. Nyhan
  • Publisher : Springer Science & Business Media
  • Release : 21 November 2009
GET THIS BOOKInherited Metabolic Diseases

The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index.

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