
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Metabolic Disorders
Description
Key Features
- 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
Readership
Students, physicians, and researchers in the field of medical genetics and personalized medicine; medical practitioners and researchers specializing in metabolic disorders, molecular medicine, and cytogenetics, as well as genetic diagnostics and therapy in these and related disciplines; genetic counselors; genetic researchers in industry and pharma
Table of Contents
- 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 André 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
Product details
- No. of pages: 790
- Language: English
- Copyright: © Academic Press 2020
- Published: September 30, 2020
- Imprint: Academic Press
- eBook ISBN: 9780128126837
- Hardcover ISBN: 9780128125359
About the Editors
Reed Pyeritz
Affiliations and Expertise
Bruce Korf
Affiliations and Expertise
Wayne Grody
Affiliations and Expertise
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