Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics has been a trusted resource for clinicians incorporating genetics into medical practice for many years. With its extensive coverage spanning nearly 5,000 pages, contributions from over 250 renowned authorities in medical genetics, and a series of 11 volumes available for individual purchase, the Seventh Edition of this esteemed reference provides the most up-to-date information on key topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive yet practical resource is essential for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. It emphasizes the fundamental theories and research related to the application of medical genetics across a wide range of inherited disorders and its broader implications in medicine.

In the field of Metabolic Disorders, leading physicians and researchers delve into the application of medical genetics to various metabolic disorders. This includes a thorough exploration of the genetic mechanisms underlying these disorders, diagnostic approaches, and the utilization of current genomic technologies and translational studies in therapeutics. Within this section, genetic researchers, students, and healthcare professionals will find updated and revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipoprotein, and lipid metabolic disorders. Additionally, it covers organic acidemias, fatty acid oxidation, and peroxisome disorders, among others.

The Seventh Edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics serves as a crucial clinical tool for health professionals and researchers, bridging the gap between high-level molecular genetics and practical application. This volume, which has been completely revised and updated, focuses on metabolic disorders, providing in-depth coverage of the genetic mechanisms, diagnostic strategies, and treatment options for these conditions. It is an essential resource for genetic researchers, students, and healthcare professionals, offering insights into a variety of metabolic disorders such as body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders. The book also covers organic acidemias, fatty acid oxidation, and peroxisome disorders, among others. With color images to aid in identification and concept illustration, as well as contributions from leading international experts in medical genetics, this edition is a comprehensive guide in the field. Additionally, the companion website offers lecture slides, image banks, and links to external resources to keep readers informed about the latest advancements in medical genetics.

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