Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders

The Seventh Edition of Emery and Rimoins Principles and Practice of Medical Genetics and Genomics is a comprehensive resource for clinicians integrating genetics into medical practice, covering prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. It also includes new and revised chapters on metabolic disorders, such as body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders.

Format: Hardback
Length: 790 pages
Publication date: 30 September 2020
Publisher: Elsevier Science Publishing Co Inc

For decades, Emery and Rimoins 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 Rimoins Principles and Practice of Medical Genetics and Genomics: .

• Provides a comprehensive yet practical resource for clinicians integrating genetics into medical practice.
• Covers nearly 5,000 pages of detailed coverage, with contributions from over 250 trusted authorities.
• Includes 11 volumes available for individual sale, covering a wide range of topics.
• Presents the latest information on prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies.
• Emphasizes theory and research fundamentals related to medical genetics applications.
• Covers a broad spectrum of inherited disorders and their applications to medicine.
• Discusses 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.
• Includes new and fully revised chapters on genetic basis of these disorders.
• Reflects the advancements in genomic technologies and their impact on precision medicine.
• Is an essential resource for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions.

Weight: 1738g
Dimension: 198 x 243 x 45 (mm)
ISBN-13: 9780128125359
Edition number: 7 ed