english version

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

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Preț: 630,00 lei
Disponibilitate: la comandă
Autor:
ISBN: 9780128125359
Editura:
Anul publicarii: 2021
Ediția: 7
Pagini: 790
Categoria: GENETICS

DESCRIERE

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.

 

With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for health professionals and researchers.  View less >

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

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