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The Metabolic Molecular Bases Of Inherited Disease
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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 Molecular Pathology in Clinical Practice by : Debra G.B. Leonard
Download or read book Molecular Pathology in Clinical Practice written by Debra G.B. Leonard and published by Springer Science & Business Media. This book was released on 2007-11-25 with total page 589 pages. Available in PDF, EPUB and Kindle. Book excerpt: This authoritative textbook embodies the current standard in molecular testing for practicing pathologists, and residents and fellows in training. The text is organized into eight sections: genetics, inherited cancers, infectious disease, neoplastic hematopathology, solid tumors, HLA typing, identity testing, and laboratory management. Discussion of each diagnostic test includes its clinical significance, available assays, quality control and lab issues, interpretation, and reasons for testing. Coverage extends to HIV, hepatitis, developmental disorders, bioterrorism, warfare organisms, lymphomas, breast cancer and melanoma, forensics, parentage, and much more. Includes 189 illustrations, 45 in full-color. This textbook is a classic in the making and a must-have reference.
Book Synopsis The Metabolic Basis of Inherited Disease by : Charles R. Scriver
Download or read book The Metabolic Basis of Inherited Disease written by Charles R. Scriver and published by . This book was released on 1989 with total page 1666 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 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 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 Basis of Health and Disease by : Undurti N. Das
Download or read book Molecular Basis of Health and Disease written by Undurti N. Das and published by Springer Science & Business Media. This book was released on 2011-04-02 with total page 591 pages. Available in PDF, EPUB and Kindle. Book excerpt: The book describes how the balance between pro- and anti-inflammatory molecules is related to health and disease. It is suggested that many diseases are initiated and their progress is influenced by inflammatory molecules and a decrease in the production and/or action of anti-inflammatory molecules and this imbalance between pro- and anti-inflammatory molecules seems to have been initiated in the perinatal period. This implies that strategies to prevent and manage various adult diseases should start in the perinatal period. An alteration in the metaolism of essential fatty acids and their anti-inflammatory molecules such as lipoxins, resolvins, protecitns, maresins and nitrolipids seems to play a major role in the pathobiology of several adult diseases. Based on these concepts, novel therapeutic approaches in the management of insulin resistance, obesity, type 2 diabetes mellitus, metabolic syndrome, cancer, lupus, rheumatoid arthritis and other auto-immune diseases are presented. Based on all these evidences, a unified concept that several adult diseases are due to an alteration in the balance between pro- and anti-inflammatory molecules is discussed and novel methods of their management are presented.
Book Synopsis Human Gene Mutation by : David N. Cooper
Download or read book Human Gene Mutation written by David N. Cooper and published by Taylor & Francis. This book was released on 1995 with total page 412 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Book Synopsis Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases by : N. Blau
Download or read book Physician’s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
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 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 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 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 Clinical Genomics: Practical Applications for Adult Patient Care by : Michael F. Murray (Physician)
Download or read book Clinical Genomics: Practical Applications for Adult Patient Care written by Michael F. Murray (Physician) and published by McGraw Hill Professional. This book was released on 2014 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first book on the clinical application of genetics in primary care medicine, Clinical Genomics focuses on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. Unlike traditional textbooks on medical genetics and dysmorphology, this is a clinical reference that covers many of the common diseases seen in everyday medical practice. Features: endorsed by the American College of Physicians; addresses the genetic basis of common chronic diseases, not just the classic diseases of dysmorphology.
Book Synopsis Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism by : Juliet E. Compston
Download or read book Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism written by Juliet E. Compston and published by John Wiley & Sons. This book was released on 2009-12-22 with total page 559 pages. Available in PDF, EPUB and Kindle. Book excerpt: EDITOR-IN-CHIEF: Clifford J. Rosen, M.D., Maine Medical Center Research Institute, Scarborough, Maine SENIOR ASSOCIATE EDITORS: Juliet E. Compston, M.D., FRCP, University of Cambridge School of Clinical Medicine, Cambridge, United Kingdom Jane B. Lian, Ph.D., University of Massachusetts Medical School, Worcester, Massachusetts This comprehensive yet concise handbook is an indispensable reference for the many clinicians who see patients with disorders of bone formation, metabolic bone diseases, or disorders of stone formation. It is also a crucial tool for researchers, students, and all other professionals working in the bone field. In a format designed for quick reference, it provides complete information on the symptoms, pathophysiology, diagnosis, and treatment of all common and rare bone and mineral disorders. New in this edition: detailed coverage of osteonecrosis of the jaw, more in-depth coverage of cancer and bone including new approaches to pathogenesis, diagnosis, and treatment; new approaches to anabolic therapy of osteoporosis; the latest research on Vitamin D; expanded coverage of international topics; more on the genetics of bone mass; and newer imaging techniques for the skeleton. In addition, this edition features a free, online-only appendix of medicines used to treat bone disorders and their availability around the world.
Book Synopsis Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by : Reed E. Pyeritz
Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Elsevier. This book was released on 2024-10-23 with total page 1227 pages. Available in PDF, EPUB and Kindle. Book excerpt: For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics and genomics into medical practice. With detailed coverage in contributions from more than 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for students, health providers, and researchers involved in the care of patients with genetic conditions, and increasingly, all areas of health and disease. This comprehensive yet practical resource emphasizes theory and research fundamentals related to the applications of medical genetics and genomics across the full spectrum of inherited disorders and applications to medicine more broadly. In this volume, leading physicians and researchers thoroughly examine medical genetics and genomics as applied to developmental disorders, as well as genetic conditions that affect hearing and vision. Here genetic researchers, students, and health professionals will find new and fully revised chapters on human developmental genetics, disorders affecting craniofacial development, chromosomal abnormalities, including aneuploidies and structural abnormalities, hereditary hearing impairment, and various genetic conditions of the eye. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics, Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers. · Thoroughly introduces genetic researchers, students, and healthcare professionals to the principles of human developmental genetics · Examines a wide range of developmental disorders, including craniofacial development as well as disorders affecting hearing and vision · Includes color images supporting identification, concept illustration, and method processing · Features contributions by leading international researchers and practitioners of medical genetics
Book Synopsis Genetic and Metabolic Disease in Pediatrics by : June Kathleen Lloyd
Download or read book Genetic and Metabolic Disease in Pediatrics written by June Kathleen Lloyd and published by Butterworth-Heinemann. This book was released on 1985 with total page 344 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics ...
