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eBooks
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders by Reed E. Pyeritz; Bruce R. Korf ; Wayne W. Grody, 2021
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.
Genetic Diagnosis of Endocrine Disorders, 2nd ed. by Roy E. Weiss; Samuel Refetoff, 2016
Genetic Diagnosis of Endocrine Disorders, Second Edition provides users with a comprehensive reference that is organized by endocrine grouping (i.e., thyroid, pancreas, parathyroid, pituitary, adrenal, and reproductive and bone), discussing the genetic and molecular basis for the diagnosis of various disorders. The book emphasizes the practical nature of diagnosing a disease, including which tests should be done for the diagnosis of diabetes mellitus in adults and children, which genes should be evaluated for subjects with congenital hypothyroidism, which genetic tests should be ordered in obese patients or for those with parathyroid carcinoma, and the rationale behind testing for multiple endocrine neoplasias.
