E-Book

Emery and Rimoin's principles and practice of medical genetics and genomics. Metabolic disorders [electronic resource]

  • Pyeritz, Reed E. , Korf, Bruce R. , Grody, Wayne W.
  • Elsevier
  • 2021
Emery and Rimoin's principles and practice of medical genetics and genomics. Metabolic disorders [electronic resource]
  • 자료유형
    단행본
  • 서명/저자사항
    Emery and Rimoin's principles and practice of medical genetics and genomics.Metabolic disorders[electronic resource] / edited by Reed E. Pyeritz, Bruce R. Korf, Wayne W. Grody.
  • 판차
    7th ed.
  • 대등서명
    Emery and Rimoin’s principles and practice of medical genetics and genomics. Metabolic disorders
    Emery & Rimoin's principles and practice of medical genetics and genomics. Metabolic disorders
    Principles and practice of medical genetics and genomics. Metabolic disorders
  • 발행사항
    Philadelphia : Elsevier, 2021.
  • 개인저자
    Pyeritz, Reed E., Korf, Bruce R., Grody, Wayne W.
  • 형태사항
    1 online resources.
  • 일반주제명
    Genomics
    Genetics, Medical
    Genetic Diseases, Inborn
  • ISBN
    9780128125359
  • 언어
    영어

초록

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.

목차

1. Congenital Heart Defects
2. Genetic Cardiomyopathies
3. Hereditary Hemorrhagic Telangiectasia (Osler–Weber–Rendu Syndrome)
4. Genetics of Electrophysiologic Disorders
5. Heritable Thoracic Aortic Disease: Single Gene Disorders Predisposing to Thoracic Aortic Aneurysms and Acute Aortic Dissections
6. The Genetics of Blood Pressure Regulation
7. Genetics and Genomics of Atherosclerotic Cardiovascular Disease
8. Genetic Disorders of the Lymphatic System
9. Disorders of the Venous System
10. Capillary Malformation/Arteriovenous Malformation
11. Cerebral Cavernous Malformations, Molecular Biology, and Genetics
12. Cystic Fibrosis
13. Genetic Underpinnings of Asthma and Related Traits
14. Hereditary Pulmonary Emphysema
15. Genetic Determinants of Interstitial Lung Diseases
16. Heritable and Idiopathic Forms of Pulmonary Arterial Hypertension
17. Gastrointestinal Tract and Hepatobiliary Duct System
18. Inflammatory Bowel Disease
19. Bile Pigment Metabolism and Its Disorders