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

An in-depth examination of genetic and genomic diagnostics and treatments applied to a range of metabolic disorders, emphasizing genetic disorders of body mass, amino acids and carbohydrate metabolism, iron and copper metabolism, and peroxisomes

Reed E. Pyeritz (Edited by), Bruce R. Korf (Edited by), Wayne W. Grody (Edited by)

9780128125359

Hardback, published 30 September 2020

790 pages
23.4 x 19 x 4 cm, 1.77 kg

Approx.776 pages

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

Subject Areas: DNA & Genome [PSAK1]