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| Author | : Charles R. Scriver |
| Publisher | : New York ; Montreal : McGraw-Hill |
| Total Pages | : 6338 |
| Release | : 2001 |
| Genre | : Genetic disorders |
| ISBN | : 9780071363198 |
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
| Author | : Michael F. Murray (Physician) |
| Publisher | : McGraw Hill Professional |
| Total Pages | : 960 |
| Release | : 2014 |
| Genre | : Medical |
| ISBN | : 0071622446 |
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.
| Author | : E. Gilbert-Barness |
| Publisher | : IOS Press |
| Total Pages | : 960 |
| Release | : 2017-01-06 |
| Genre | : Medical |
| ISBN | : 1614997187 |
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.
| Author | : Barton Childs |
| Publisher | : JHU Press |
| Total Pages | : 352 |
| Release | : 2003-09-15 |
| Genre | : Medical |
| ISBN | : 9780801874420 |
Childs thus provides a conceptual framework within which to teach and practice a humane medicine.
| Author | : David N. Cooper |
| Publisher | : Taylor & Francis |
| Total Pages | : 412 |
| Release | : 1995 |
| Genre | : Science |
| ISBN | : 9781859960554 |
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.
| Author | : Johannes Zschocke |
| Publisher | : Schattauer Verlag |
| Total Pages | : 188 |
| Release | : 2011 |
| Genre | : Pediatrics |
| ISBN | : 3794528166 |
| Author | : Juliet E. Compston |
| Publisher | : John Wiley & Sons |
| Total Pages | : 559 |
| Release | : 2009-12-22 |
| Genre | : Science |
| ISBN | : 0470623985 |
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.
| Author | : Charles R. Scriver |
| Publisher | : |
| Total Pages | : |
| Release | : 2002-06 |
| Genre | : |
| ISBN | : 9780077103682 |
| Author | : Reed E. Pyeritz |
| Publisher | : Elsevier |
| Total Pages | : 1227 |
| Release | : 2024-10-23 |
| Genre | : Medical |
| ISBN | : 0128152354 |
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
| Author | : Kenneth B. Storey |
| Publisher | : John Wiley & Sons |
| Total Pages | : 640 |
| Release | : 2005-02-25 |
| Genre | : Science |
| ISBN | : 0471675571 |
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.
