Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Metabolic Disorders

ISBN-13: 9780128125359 / Angielski / Twarda / 2020 / 400 str.

Reed E. Pyeritz; Bruce R. Korf; Wayne W. Grody

Spis treści

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

O autorze

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 from 1999 to 2002. He was associate professor of neurology at Harvard Medical School and directed postdoctoral training in medical and laboratory genetics at hospitals affiliated with Harvard. Korf's principal area of research is neurofibromatosis. Korf is the author of Human Genetics: A Problem-Based Approach, an introductory graduate textbook used by medical students and genetic counselors. He is co-author, with Dorian Pritchard, of Medical Genetics at a Glance, and an editor of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. Wayne W. Grody, M.D., Ph.D. is a Professor in the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics at the UCLA School of Medicine. He is the director of the Diagnostic Molecular Pathology Laboratory within the UCLA Medical Center, and is also an attending physician in the Department of Pediatrics, specializing in the care of patients with or at risk for genetic disorders. He has been one of the primary developers of quality assurance and ethical guidelines for DNA-based genetic testing for a number of governmental and professional agencies including the FDA, AMA, CAP, ACMG, ASHG, NCCLS, CDC, NIH-DOE Human Genome Project (ELSI program), and PSRGN. He served as a member of the NIH-DOE Task Force on Genetic Testing, and was the working group chair for development of national guidelines for cystic fibrosis and factor V-Leiden mutation screening. Most recently, he was appointed chair of an Advisory Committee on Genomic Medicine for the entire VA healthcare system. He did his undergraduate work at Johns Hopkins University, received his M.D. and Ph.D. at Baylor College of Medicine, and completed residency and fellowship training at UCLA. He is double board-certified by the American Board of Pathology (Anatomic and Clinical Pathology, Molecular Genetic Pathology) and the American Board of Medical Genetics (Clinical Genetics, Molecular Genetics, and Biochemical Genetics).