Phenotypic Analysis And Molecular Characterization Of Quo Vadis
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Inborn Metabolic Diseases
Author | : K. Tada |
Publisher | : Springer Science & Business Media |
Total Pages | : 421 |
Release | : 2013-03-14 |
Genre | : Medical |
ISBN | : 3662031477 |
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Index Medicus
Author | : |
Publisher | : |
Total Pages | : 2098 |
Release | : 2004 |
Genre | : Medicine |
ISBN | : |
Vols. for 1963- include as pt. 2 of the Jan. issue: Medical subject headings.
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author | : Reed E. Pyeritz |
Publisher | : Academic Press |
Total Pages | : 792 |
Release | : 2020-09-30 |
Genre | : Medical |
ISBN | : 0128126833 |
For decades, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With nearly 5,000 pages of detailed coverage, contributions from over 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 and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. 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. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field
Goldman's Cecil Medicine E-Book
Author | : Lee Goldman |
Publisher | : Elsevier Health Sciences |
Total Pages | : 2849 |
Release | : 2011-07-08 |
Genre | : Medical |
ISBN | : 1437736084 |
Stay on the cutting edge with the newly revised eBook of Goldman’s Cecil Medicine, with over 400 updates personally selected by Dr. Lee Goldman and integrated directly into each chapter. Since 1927, Goldman’s Cecil Medicine has been the world’s most influential internal medicine resource and now in its 24th edition, continues to set the standard for all other references of its kind. Edited by Lee Goldman, MD and Andrew I. Schafer, MD, this is quite simply the fastest and best place to find all of the definitive, state-of-the-art clinical answers you need to understand, diagnosis, or treat essentially anything you are going to encounter. At your fingertips, you'll find authoritative, unbiased, evidence-based guidance on the evaluation and management of every medical condition from a veritable "Who's Who" of modern medicine. Consult this title on your favorite e-reader, conduct rapid searches, and adjust font sizes for optimal readability. Simplify decision making with practical, well-organized, templated chapters that include evidence-ranked references and algorithms to make clinically actionable information leap right off the page. Keep current with the latest knowledge and evidence-based practices. Comprehensive updates throughout include many brand-new and completely revamped chapters on topics like applications of molecular technologies, infectious diseases, and cardiovascular techniques and treatments. Get all the accuracy, expertise, and dependability you could ask for from Dr. Goldman and an editorial team that is a veritable "who's who" of modern medicine including Jeffrey Drazen, MD, Editor-in-Chief of the New England Journal of Medicine and new associate editor Wendy Levinson, MD, 2009-2010 Chair of the Board of Directors of the American Board of Internal Medicine. Reference information more quickly thanks to a new, streamlined format.
Molecular Interactions Between Crops and Phytopathogens, Volume I: Wheat and Maize
Author | : Xiaodong Wang |
Publisher | : Frontiers Media SA |
Total Pages | : 144 |
Release | : 2022-09-02 |
Genre | : Science |
ISBN | : 2889768880 |
Chemical Genomics and Proteomics
Author | : Ferenc Darvas |
Publisher | : CRC Press |
Total Pages | : 243 |
Release | : 2013-01-11 |
Genre | : Medical |
ISBN | : 1439830592 |
Since the publication of the pioneering first edition of Chemical Genomics and Proteomics more than seven years ago, the area of chemical genomics has rapidly expanded and diversified to numerous novel methods and subdisciplines, such as chemical glycomics and lipidomics. This second edition has been updated to uniquely reflect this interdisciplina