Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics by Pyeritz, Reed E.; Korf, Bruce R.; Grody, Wayne W.;

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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.

Tartalomjegyzék:

1. Disorders of the Body Mass
Omar Ali, Alvina Kansra and Patricia A. Donohoue
2. Genetic Lipodystrophies
Abhimanyu Garg
3. Amino Acid Metabolism
Rossana L. Sanchez Russo and William R. Wilcox
4. Disorders of Carbohydrate Metabolism
Priya S. Kishnani and Yuan-Tsong Chen
5. Disorders Affecting Glycosylation
Hudson H. Freeze, Bobby G. Ng and Lynne A. Wolfe
6. Purine and Pyrimidine Metabolism
Naoyuki Kamatani, H.A. Jinnah, Raoul C.M. Hennekam and Andrï¿1⁄2 B.P. van Kuilenburg
7. Lipoprotein and Lipid Metabolism
Robert A. Hegele
8. Organic Acidemias and Disorders of Fatty Acid Oxidation
Jerry Vockley
9. Vitamin D Metabolism or Action
Elizabeth A. Streeten and Michael A. Levine
10. Inherited Porphyrias
Robert J. Desnick, Manisha Balwani and Karl E. Anderson
11. Inherited Disorders of Human Copper Metabolism
Stephen G. Kaler
12. Iron Metabolism and Related Disorders
Yelena Z. Ginzburg and Karin E. Finberg
13. Mucopolysaccharidoses
Roberto Giugliani
14. Lysosomal Storage Disorders
Angela Sun, Irene J. Chang, Christina Lam and Gerard T. Berry
15. Peroxisomal Disorders
Ronald J.A. Wanders and Hans R. Waterham
16. Genetics of Mitochondrial Respiratory Chain Disease
Rebecca D. Ganetzky and Marni J. Falk