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The Metabolic Molecular Bases Of Inherited Disease Perspectives
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Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Book Synopsis Metabolic Diseases by : E. Gilbert-Barness
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Vademecum Metabolicum by : Johannes Zschocke
Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Molecular Nutrition and Diabetes by : Didac Mauricio
Download or read book Molecular Nutrition and Diabetes written by Didac Mauricio and published by Academic Press. This book was released on 2015-12-08 with total page 400 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Nutrition and Diabetes: A Volume in the Molecular Nutrition Series focuses on diabetes as a nutritional problem and its important metabolic consequences. Fuel metabolism and dietary supply all influence the outcome of diabetes, but understanding the pathogenesis of the diabetic process is a prelude to better nutritional control. Part One of the book provides general coverage of nutrition and diabetes in terms of dietary patterns, insulin resistance, and the glucose-insulin axis, while Part Two presents the molecular biology of diabetes and focuses on areas such as oxidative stress, mitochondrial function, insulin resistance, high-fat diets, nutriceuticals, and lipid accumulation. Final sections explore the genetic machinery behind diabetes and diabetic metabolism, including signaling pathways, gene expression, genome-wide association studies, and specific gene expression. While the main focus of each chapter is the basic and clinical research on diabetes as a nutritional problem, all chapters also end with a translational section on the implications for the nutritional control of diabetes. - Offers updated information and a perspective on important future developments to different professionals involved in the basic and clinical research on all major nutritional aspects of diabetes mellitus - Explores how nutritional factors are involved in the pathogenesis of both type1 and type2 diabetes and their complications - Investigates the molecular and genetic bases of diabetes and diabetic metabolism through the lens of a rapidly evolving field of molecular nutrition
Book Synopsis Biochemical and Molecular Basis of Pediatric Disease by : Edward C.C. Wong
Download or read book Biochemical and Molecular Basis of Pediatric Disease written by Edward C.C. Wong and published by Academic Press. This book was released on 2021-05-13 with total page 1172 pages. Available in PDF, EPUB and Kindle. Book excerpt: Biochemical and Molecular Basis of Pediatric Disease, Fifth Edition has been a well-respected reference in the field for decades. This revision continues the strong focus on understanding the pathogenesis of pediatric disease, emphasizing not only the important role of the clinical laboratory in defining parameters that change with the disease process, but also the molecular basis of many pediatric diseases. - Provides a fully-updated resource with more color illustrations - Focuses on the biochemical and molecular basis of disease as well as the analytical techniques - Defines important differences in the pathophysiology of diseases, comparing childhood with adult
Book Synopsis Molecular Pathology by : William B. Coleman
Download or read book Molecular Pathology written by William B. Coleman and published by Academic Press. This book was released on 2017-11-09 with total page 805 pages. Available in PDF, EPUB and Kindle. Book excerpt: As the molecular basis of human disease becomes better characterized, and the implications for understanding the molecular basis of disease becomes realized through improved diagnostics and treatment, Molecular Pathology, Second Edition stands out as the most comprehensive textbook where molecular mechanisms represent the focus. It is uniquely concerned with the molecular basis of major human diseases and disease processes, presented in the context of traditional pathology, with implications for translational molecular medicine. The Second Edition of Molecular Pathology has been thoroughly updated to reflect seven years of exponential changes in the fields of genetics, molecular, and cell biology which molecular pathology translates in the practice of molecular medicine. The textbook is intended to serve as a multi-use textbook that would be appropriate as a classroom teaching tool for biomedical graduate students, medical students, allied health students, and others (such as advanced undergraduates). Further, this textbook will be valuable for pathology residents and other postdoctoral fellows that desire to advance their understanding of molecular mechanisms of disease beyond what they learned in medical/graduate school. In addition, this textbook is useful as a reference book for practicing basic scientists and physician scientists that perform disease-related basic science and translational research, who require a ready information resource on the molecular basis of various human diseases and disease states. - Explores the principles and practice of molecular pathology: molecular pathogenesis, molecular mechanisms of disease, and how the molecular pathogenesis of disease parallels the evolution of the disease - Explains the practice of "molecular medicine and the translational aspects of molecular pathology - Teaches from the perspective of "integrative systems biology - Enhanced digital version included with purchase
Book Synopsis Molecular Basis of Nutrition and Aging by : Marco Malavolta
Download or read book Molecular Basis of Nutrition and Aging written by Marco Malavolta and published by Academic Press. This book was released on 2016-04-15 with total page 786 pages. Available in PDF, EPUB and Kindle. Book excerpt: Molecular Basis of Nutrition and Aging: A Volume in the Molecular Nutrition Series focuses on the nutritional issues associated with aging and the important metabolic consequences of diet, nutrition, and health. The book is subdivided into four parts that reflect the impact of nutrition from a biomolecular level to individual health. In Part One, chapters explore the general aspects of aging, aging phenotypes, and relevant aspects of nutrition related to the elderly and healthy aging. Part Two includes molecular and cellular targets of nutrition in aging, with chapters exploring lipid peroxidation, inflammaging, anabolic and catabolic signaling, epigenetics, DNA damage and repair, redox homeostasis, and insulin sensitivity, among others. Part Three looks at system-level and organ targets of nutrition in aging, including a variety of tissues, systems, and diseases, such as immune function, the cardiovascular system, the brain and dementia, muscle, bone, lung, and many others. Finally, Part Four focuses on the health effects of specific dietary compounds and dietary interventions in aging, including vitamin D, retinol, curcumin, folate, iron, potassium, calcium, magnesium, zinc, copper, selenium, iodine, vitamin B, fish oil, vitamin E, resveratrol, polyphenols, vegetables, and fruit, as well as the current nutritional recommendations. - Offers updated information and a perspectives on important future developments to different professionals involved in the basic and clinical research on all major nutritional aspects of aging - Explores how nutritional factors are involved in the pathogenesis of aging across body systems - Investigates the molecular and genetic basis of aging and cellular senescence through the lens of the rapidly evolving field of molecular nutrition
Book Synopsis Cancer as a Metabolic Disease by : Thomas Seyfried
Download or read book Cancer as a Metabolic Disease written by Thomas Seyfried and published by John Wiley & Sons. This book was released on 2012-05-18 with total page 482 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book addresses controversies related to the origins of cancer and provides solutions to cancer management and prevention. It expands upon Otto Warburg's well-known theory that all cancer is a disease of energy metabolism. However, Warburg did not link his theory to the "hallmarks of cancer" and thus his theory was discredited. This book aims to provide evidence, through case studies, that cancer is primarily a metabolic disease requring metabolic solutions for its management and prevention. Support for this position is derived from critical assessment of current cancer theories. Brain cancer case studies are presented as a proof of principle for metabolic solutions to disease management, but similarities are drawn to other types of cancer, including breast and colon, due to the same cellular mutations that they demonstrate.
Book Synopsis The Metabolic and Molecular Bases of Inherited Disease by :
Download or read book The Metabolic and Molecular Bases of Inherited Disease written by and published by . This book was released on 1995 with total page 1745 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Genetics of Bone Biology and Skeletal Disease by : Rajesh V. Thakker
Download or read book Genetics of Bone Biology and Skeletal Disease written by Rajesh V. Thakker and published by Academic Press. This book was released on 2017-10-31 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetics of Bone Biology and Skeletal Disease, Second Edition, is aimed at students of bone biology and genetics and includes general introductory chapters on bone biology and genetics. More specific disease orientated chapters comprehensively summarize the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder. The book is organized into five sections that each emphasize a particular theme, general background to bone biology, general background to genetics and epigenetics, disorders of bone and joint, parathyroid and related disorders, and vitamin D and renal disorders. The first section is specifically devoted to providing an overview of bone biology and structure, joint and cartilage biology, principles of endocrine regulation of bone, and the role of neuronal regulation and energy homeostasis. The second section reviews the principles and progress of medical genetics and epigenetics related to bone disease, including genome-wide association studies (GWAS), genomic profiling, copy number variation, prospects of gene therapy, pharmacogenomics, genetic testing and counseling, as well as the generation and utilizing of mouse models. The third section details advances in the genetics and molecular biology of bone and joint diseases, both monogenic and polygenic, as well as skeletal dysplasias, and rarer bone disorders. The fourth section highlights the central role of the parathyroids in calcium and skeletal homeostasis by reviewing the molecular genetics of: hyperparathyroidism, hypoparathyrodism, endocrine neoplasias, and disorders of the PTH and calcium-sensing receptors. The fifth section details molecular and cellular advances across associated renal disorders such as vitamin D and rickets. - Identifies and analyzes the genetic basis of bone disorders in humans and demonstrates the utility of mouse models in furthering the knowledge of mechanisms and evaluation of treatments - Demonstrates how the interactions between bone and joint biology, physiology, and genetics have greatly enhanced the understanding of normal bone function as well as the molecular pathogenesis of metabolic bone disorders - Summarizes the clinical, genetic, molecular, animal model, molecular pathology, diagnostic, counseling, and treatment aspects of each disorder
Book Synopsis Functional Metabolism by : Kenneth B. Storey
Download or read book Functional Metabolism written by Kenneth B. Storey and published by John Wiley & Sons. This book was released on 2005-02-25 with total page 640 pages. Available in PDF, EPUB and Kindle. Book excerpt: Functional Metabolism of Cells is the first comprehensive survey of metabolism, offering an in-depth examination of metabolism and regulation of carbohydrates, lipids, and amino acids. It provides a basic background on metabolic regulation and adaptation as well as the chemical logic of metabolism, and covers the interrelationship of metabolism to life processes of the whole organism. The book lays out a structured approach to the metabolic basis of disease, including discussion of the normal pathways of metabolism, altered pathways leading to disease, and use of molecular genetics in diagnosis and treatment of disease. It also takes a unique comparative approach in which human metabolism is a reference for metabolism in microorganisms and plant design, and presents novel coverage of development and aging, and human health and animal adaptation. The final chapter reviews the past and future promise of new genetic approaches to treatment and bioinformatics. This, the most exhaustive treatment of metabolism currently available, is a useful text for advanced undergraduates and graduates in biochemistry, cell/molecular biology, and biomedicine, as well as biochemistry instructors and investigators in related fields.
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by :
Download or read book The Metabolic & Molecular Bases of Inherited Disease written by and published by . This book was released on 2001 with total page 1306 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis The Pediatric and Perinatal Autopsy Manual by : Marta C. Cohen
Download or read book The Pediatric and Perinatal Autopsy Manual written by Marta C. Cohen and published by Cambridge University Press. This book was released on 2014-04-24 with total page 980 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Pediatric and Perinatal Autopsy Manual is a clear and practical yet comprehensive guide for pathology trainees and non-pediatric pathologists. With chapters organized by types of autopsy, this manual answers questions such as: what do I do in cases of congenital malformation or suspected metabolic disease? What is important in the diagnosis of intrapartum and neonatal death? What must I consider in a baby with intrauterine growth restriction and stillbirth? How do I perform a post-mortem in a case of sudden death in infancy? Chapters describe the most important conditions to consider when examining the organs, both macroscopically and histologically, as well as descriptions of how to perform the autopsy. The book is richly illustrated throughout with numerous color images. Written and edited by leading experts in the field, this is an essential resource for non-pediatric general and trainee pathologists as well as forensic pathologists.
Book Synopsis The Metabolic [and] Molecular Bases of Inherited Disease by :
Download or read book The Metabolic [and] Molecular Bases of Inherited Disease written by and published by . This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Book Synopsis Nutritional and Metabolic Bases of Cardiovascular Disease by : Mario Mancini
Download or read book Nutritional and Metabolic Bases of Cardiovascular Disease written by Mario Mancini and published by John Wiley & Sons. This book was released on 2011-07-11 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: Extraordinary advances in the understanding of the links between nutrition, metabolism, and cardiovascular disease have prompted a systematic reappraisal of knowledge in the field. As a result, it is now imperative that clinicians who care for patients with CVD or its key risk factors have a solid understanding of the often complex interrelationships between cardiovascular health and chronic diseases such as diabetes and obesity. Written by a team of international thought leaders in cardiology, endocrinology, diabetology and nutritional science, this important new book: Examines and updates the role of obesity, hyperlipidemia, diabetes, hypertension, thrombosis, and aging in atherogenesis Describes in detail the scientific and clinical evidence of the etiopathogenesis of ischemic heart disease as well as of peripheral and cerebrovascular disease Focuses on the 6 topics that will be of greatest interest to readers: 1) general nutrition, 2) metabolic syndrome and diabetes, 3) hyperlipidemia and atherosclerosis, 4) hypertension and cerebrovascular disease, 5) hemostasis and thrombosis, 6) aging Throughout the book, in clear and accessible text, contributors illuminate the close relationship between dietary habits, the metabolic processes of nutrients, and their impact on the cardiovascular system, always with an eye on how the physician can use this information to implement better cardiovascular prevention and improve patient care. Nutritional and Metabolic Bases of Cardiovascular Disease is ideal for those who need to update their knowledge of the links between nutrition, metabolism and CVD, from trainees, clinicians and clinical investigators in cardiovascular medicine to endocrinologists, diabetologists, and nutritionists.