دانلود کتاب اصول و عملکرد در ژنتیک و ژنومیک پزشکی امری و ریموین: اختلالات متابولیک
Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders, 7ed
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 researchersthoroughly 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.
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
۱. Disorders of the Body Mass
۲. Genetic Lipodystrophies
۳. Amino Acid Metabolism
۴. Disorders of Carbohydrate Metabolism
۵. Disorders Affecting Glycosylation
۶. Purine and Pyrimidine Metabolism
۷. Lipoprotein and Lipid Metabolism
۸. Organic Acidemias and Disorders of Fatty Acid Oxidation
۹. Vitamin D Metabolism or Action
۱۰. Inherited Porphyrias
۱۱. Inherited Disorders of Human Copper Metabolism
۱۲. Iron Metabolism and Related Disorders
۱۴. Lysosomal Storage Disorders
۱۵. Peroxisomal Disorders
۱۶. Genetics of Mitochondrial Respiratory Chain Disease
لینک کوتاه : https://bookbaz.ir/?p=309603
نویسنده : Reed E. Pyeritz
ناشر : Academic Press; 7th edition
سال انتشار : 2021
زبان کتاب : انگلیسی
نوع فایل : PDF (نسخه اصلی)
تعداد صفحات : 785
(ISBN) شابک : 0128125357
قیمت کتاب درآمازون : $121.46
حجم فایل : 30 MB