Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics

Metabolic Disorders

Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody

• Publisher: Academic Press
• Year: 2020
• Print ISBN:
  9780128125359
• eBook ISBN:
  9780128126837
• Edition: 7
• Topic: Medicine
• Subtopic: Genetics in Medicine

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

Table of contents

• Cover
• Front Matter
• Table of Contents
• Copyright
• List of Contributors
• Preface To The Seventh Edition of Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
• Preface to Metabolic disorders
• List of Illustrations
• List of Tables
• 1 : Disorders of the Body Mass
• 2 : Genetic Lipodystrophies
• 3 : Amino Acid Metabolism
• 4 : Disorders of Carbohydrate Metabolism
• 5 : Disorders Affecting Glycosylation
• 6 : Purine and Pyrimidine Metabolism
• 7 : Lipoprotein and Lipid Metabolism
• 8 : Organic Acidemias and Disorders of Fatty Acid Oxidation
• 9 : Vitamin D Metabolism or Action
• 10 : Inherited Porphyrias
• 11 : Inherited Disorders of Human Copper Metabolism
• 12 : Iron Metabolism and Related Disorders
• 13 : Mucopolysaccharidoses∗
• 14 : Lysosomal Storage Disorders
• 15 : Peroxisomal Disorders
• 16 : Genetics of Mitochondrial Respiratory Chain Disease
• Index
• A