Emery and Rimoins Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders

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 methodsProvides 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 othersIncludes color images supporting identification, concept illustration, and method processingFeatures contributions by leading international researchers and practitioners of medical geneticsA 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 INDICE: 1. Disorders of the Body Mass2. Genetic Lipodystrophies3. Amino Acid Metabolism4. Disorders of Carbohydrate Metabolism5. Congenital Disorders of Protein Glycosylation6. Purine and Pyrimidine Metabolism7. Lipoprotein and Lipid Metabolism8. Organic Acidemias and Disorders of Fatty Acid Oxidation9. Vitamin D Metabolism or Action10. Inherited Porphyrias11. Inherited Disorders of Human Copper Metabolism12. Iron Metabolism and Related Disorders13. Mucopolysaccharidoses14. Oligosaccharidoses: Disorders Allied to the Oligosaccharidoses15. Sphingolipid Disorders and the Neuronal Ceroid Lipofuscinoses or Batten Disease (Wolman Disease, Cholesteryl Ester Storage Disease, and Cerebrotendinous Xanthomatosis)16. Peroxisomal Disorders

• ISBN: 978-0-12-812535-9
• Editorial: Academic Press
• Encuadernacion: Cartoné
• Páginas: 400
• Fecha Publicación: 01/12/2019
• Nº Volúmenes: 1
• Idioma: Inglés