Emery and Rimoin's principles and practice of medical genetics and genomics. / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
| Other author | Pyeritz, Reed E. |
| Other author | Korf, Bruce R. |
| Other author | Grody, Wayne W. |
| Format | Electronic |
| Edition | Seventh edition. |
| Publication Info | London, United Kingdom : Elsevier/Academic Press, [2021] |
| Description | xiii, 775 pages : illustrations (chiefly color) ; 24 cm |
| Supplemental Content | Full text available from eBook - Biochemistry, Genetics and Molecular Biology 2020 [EBCBGMB20] |
| Supplemental Content | Full text available from ClinicalKey Flex |
| Subjects |
| Uniform title | Emery and Rimoin's principles and practice of medical genetics. |
| Variant title | Metabolic disorders |
| Variant title | Principles and practice of medical genetics and genomics |
| 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. |
| Abstract | "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"--Publisher's description |
| General note | "The seventh edition ... publication of the text in 11 separate volume"--Page xi. |
| General note | Preceded by Emery and Rimoin's principles and practice of medical genetics / edited by David L. Rimoin, Read E. Pyeritz, Bruce R. Korf. Sixth edition. 2013. |
| Bibliography note | Includes bibliographical references and index. |
| Access restriction | Available only to authorized users. |
| Technical details | Mode of access: World Wide Web |
| Genre/form | Electronic books. |
| ISBN | 9780128125359 (hardcover) |
| ISBN | 0128125357 (hardcover) |
Availability
| Library | Location | Call Number | Status | Item Actions |
|---|---|---|---|---|
| Electronic Resources | ✔ Available |