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Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics (7th Ed.) Metabolic Disorders

Langue : Anglais

Coordonnateurs : Pyeritz Reed E., Korf Bruce R., Grody Wayne W.

Couverture de l’ouvrage Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

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.

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

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

Dr. Reed Pyeritz is a medical genetics doctor in Philadelphia, Pennsylvania and is affiliated with Hospitals of the University of Pennsylvania-Penn Presbyterian. Dr. Pyeritz focuses his research in two areas – Mendelian disorders of the cardiovascular system (especially those involving defects of connective tissue) and ethical, legal and social implications of human genetics. He is continuing his studies, begun over 20 years ago, of Marfan syndrome and related conditions – diseases in which the aorta and occasionally major arterial branches gradually enlarge and dissect, leading to early demise if untreated. Current efforts include a multicenter trial of angiotensin receptor blockade in Marfan syndrome, the identification of additional genes that predispose to arteriopathy, and improving methods for diagnosing and treating arterio-venous malformations, especially in hereditary hemorrhagic telangiectasia (HHT). Dr. Pyeritz directs Penn CIGHT (Center for the Integration of Genetic Healthcare Technologies). Supported by the ELSI Branch of the National Human Genome Research Institute, Penn CIGHT conducts research in the broad area of ‘uncertainty’ as related to the introduction of evolving approaches to assaying a patient’s genotype.
Bruce R. Korf is the director of the Heflin Center for Human Genetics and chairman of the Department of Genetics at the University of Alabama at Birmingham. In April 2009, he began a two-year term as president of the American College of Medical Genetics (ACMG). Korf received his M.D. from Cornell University Medical College and his Ph.D. in genetics and cell biology from Rockefeller University. He completed a residency in pediatrics, pediatric neurology, and genetics at Children's Hospital, Boston. Prior to his appointment at the University of Alabama, he served as clinical director in the Division of Genetics at Children's Hospital from 1986 to 1999, and as the medical director of the Harvard-Partners Center for Genetics and Genomics fr
  • 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

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Thèmes d’Emery and Rimoin’s Principles and Practice of Medical... :

Mots-clés :

Adipose tissue; ADRA2A; Adrenoleukodystrophy; AGPAT2AKT2Autoinflammatory syndromes; Allelic heterogeneity; Amino acid disorders; Aminoacidopathies; Apolipoproteins; Atherosclerosis; ATP7A; ATP7B; Autosomal codominant; Autosomal dominant; Autosomal recessive; Branched-chain amino acids; BSCL2CAV1CAVIN1CIDEC; Carbohydrate metabolism; Cardiovascular disease; Ceruloplasmin; Congenital generalized lipodystrophy; Copper; Coronary heart disease; Developmental delay; Disaccharidase deficiencies; Distal motor neuropathy; DNA; Dyslipidemia; Dyslipoproteinemia; Enzyme replacement therapy; Familial chylomicronemia; Familial hypercholesterolemia; Familial partial lipodystrophy; Fatty acid oxidation; Fatty acids; Fructose metabolism; Galactose metabolism; Gene therapy; Gluconeogenic disorders; Glycogen storage diseases; Hyperoxaluria; Hypoglycemia; Inborn errors of metabolism; Inborn errors; Laboratory diagnosis; Lamin A/C; LAMP2Pentose metabolism; LIPE; Lipids; Lipodystrophy; Lipoproteins; Locus heterogeneity; Mandibuloacral dysplasia; Mass spectrometry; Maternal inheritance; Menkes disease; Metabolic acidosis; Metabolic disorders; Metabolic myopathy; MFN2PIK3R1PLIN1POL3RA; Mitochondrial DNA (mtDNA)Nuclear DNA; Monogenic; Newborn screening; Occipital horn syndrome; Organic acidemia; Peroxisomal disorders; Peroxisomal metabolism; Peroxisomes; Pharmacogenomics; POLD1PPARG; Pompe disease; Progeroid syndrome; PSMB8PTRF; Purine; Pyrimidine; Refsum disease; RNA; Sudden infant death; Trace metal nutrition; Wilson disease; Zellweger syndrome