Emery and Rimoin's principles and practice of medical genetics and genomics. Metabolic disorders /
"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 genomi...
| Other Authors: | , , |
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| Language: | English |
| Published: |
London, United Kingdom :
Elsevier/Academic Press,
[2021]
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| Edition: | Seventh edition. |
| Subjects: | |
| Online Access: | ScienceDirect |
Table of Contents:
- Disorders of the body mass
- Genetic lipodystrophies
- Amino acid metabolism
- Disorders of carbohydrate metabolism
- Disorders affecting glycosylation
- Purine and pyrimidine metabolism
- Lipoprotein and lipid metabolism
- Organic acidemias and disorders of fatty acid oxidation
- Vitamin d metabolism or action
- Inherited porphyrias
- Inherited disorders of human copper metabolism
- Iron metabolism and related disorders
- Mucopolysaccharidoses
- Lysosomal storage disorders
- Peroxisomal disorders
- Genetics of mitochondrial respiratory chain disease.