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| Author | : Robert P. Erickson |
| Publisher | : Oxford University Press |
| Total Pages | : 1553 |
| Release | : 2016 |
| Genre | : Medical |
| ISBN | : 0199934525 |
Preceded by: Inborn errors of development / edited by Charles J. Epstein, Robert P. Erickson, Anthony Wynshaw-Boris. 2nd ed. 2008.
| Author | : Charles J. Epstein |
| Publisher | : Oxford University Press, USA |
| Total Pages | : 1110 |
| Release | : 2004 |
| Genre | : Medical |
| ISBN | : 019514502X |
In this book, the clinical chapters are organized into sections by defined developmental pathways or gene families, and each section is preceded by a general overview. For each disorder the authors cover the disease-causing genes, the role of these genes in development as elucidated in model organisms, the human mutations that have been identified, and the developmental pathogenesis of the condition. Clinical descriptions, along with discussions of therapy and counseling, are provided. This book will be an invaluable resource for physicians, dentists, and other health professionals and for basic scientists interested in developmental processes and genetic perturbations that affect them.
| Author | : Brendan Lee |
| Publisher | : Oxford Monographs on Medical G |
| Total Pages | : 393 |
| Release | : 2014-10-13 |
| Genre | : Medical |
| ISBN | : 0199797587 |
This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.
| Author | : Charles R. Scriver |
| Publisher | : New York ; Montreal : McGraw-Hill |
| Total Pages | : 6338 |
| Release | : 2001 |
| Genre | : Genetic disorders |
| ISBN | : 9780071363198 |
Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
| Author | : David Epstein |
| Publisher | : Penguin |
| Total Pages | : 370 |
| Release | : 2014-04-29 |
| Genre | : Sports & Recreation |
| ISBN | : 161723012X |
The New York Times bestseller – with a new afterword about early specialization in youth sports – from the author of Range: Why Generalists Triumph in a Specialized World. The debate is as old as physical competition. Are stars like Usain Bolt, Michael Phelps, and Serena Williams genetic freaks put on Earth to dominate their respective sports? Or are they simply normal people who overcame their biological limits through sheer force of will and obsessive training? In this controversial and engaging exploration of athletic success and the so-called 10,000-hour rule, David Epstein tackles the great nature vs. nurture debate and traces how far science has come in solving it. Through on-the-ground reporting from below the equator and above the Arctic Circle, revealing conversations with leading scientists and Olympic champions, and interviews with athletes who have rare genetic mutations or physical traits, Epstein forces us to rethink the very nature of athleticism.
| Author | : Frederick J. Suchy |
| Publisher | : Cambridge University Press |
| Total Pages | : 875 |
| Release | : 2021-03-18 |
| Genre | : Medical |
| ISBN | : 1108911374 |
Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
| Author | : T.V.N. Persaud |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 395 |
| Release | : 2012-12-06 |
| Genre | : Medical |
| ISBN | : 9401166218 |
Surprisingly, the beginning of a modern approach This collection of articles and commentaries is an to the problems of birth defects is relatively recent integration of information from many disciplines, and dates from Gregg's classical report in 1941 that and presents a comprehensive survey of both recent mothers who contracted rubella during the first tri and previously reported work related to the major mester of pregnancy gave birth to infants with severe aspects of birth defects. In particular, an attempt multiple anomalies. For the first time, an environ has been made to provide a critical assessment of mental agent was found to be teratogenic in man current concepts and to identify areas in need of and was documented in a thoroughly convincing further investigation. manner. Since then, many important discoveries The scope of this volume and space limitations and significant developments have been made, par precluded discussion of and reference to all papers ticularly in the areas of environmental teratogenesis, of relevance or importance: a work of the present hereditary mechanisms, and prenatal diagnosis. nature must necessarily be selective. Some good In recent years, there has been an impressive papers have been left out or given relatively little surge of interest in the causes and prevention of consideration. It is my hope that the list of Further birth defects. Undoubtedly this resulted not only References will be consulted and should compensate from the thalidomide tragedy, but also from the for this lack of completeness.
| Author | : Marschall S. Runge |
| Publisher | : Springer Science & Business Media |
| Total Pages | : 604 |
| Release | : 2007-11-14 |
| Genre | : Medical |
| ISBN | : 1592598781 |
An easy-to-read survey of all the latest developments in molecular cardiologic research and therapy. The authors explain in a readable style the complex process of the heart's development, the molecular basis of cardiovascular diseases, and the translation of these research advances to actual clinical treatments. The expert information provided here serves as an invaluable building block for novel treatments of cardiovascular diseases and includes a comprehensive discussion of cardiac function and dysfunction, coronary artery disease, cardiac arrhythmias, vascular diseases, and risk factors for cardiovascular disease. These state-of-the-art approaches to molecular cardiologic research include critical discussion of such topics as the molecular events that regulate angiogenesis and the potential for angiogenic therapy, emerging therapies for arrhythmias, and a description of the molecular biology of aging and its impact on the cardiovascular system.
| Author | : Amos Etzioni |
| Publisher | : Academic Press |
| Total Pages | : 377 |
| Release | : 2014-09-13 |
| Genre | : Medical |
| ISBN | : 0124115543 |
Primary Immunodeficiency Disorders: A Historic and Scientific Perspective provides a complete historical context that is crucial for students and researchers concerned with primary immunodeficiency. When researchers have a poor understanding of the way we arrived where we are in research, they can miss important points about a disease, or miss out on how to approach new diseases. This historical knowledge of research can assist greatly by showing how it was done in the past, demonstrating the successes and failures, so that it can be done better in the future. This book provides an understanding of the process going from clinical problem to lab and back to the clinic, based on historical experiences. Its chapters proceed from the discovery of the T and B cell lineages through the first BMT for immunodeficiency disorder; lab investigation and gene therapy for PID; the discovery of the gene for AT and its function; understanding cytokine defects; and many other stops along the way. Facilitates communication among physicians and other investigators concerned with immunological and inflammatory diseases Summarizes for the first time all the known facts from 60 years of primary immunodeficiency research, and teaches how an important field in medicine was established Provides stimulating discussions on developing new medical therapiesHighlights the importance of studying humans to understand mechanisms of disease that affect humans
| Author | : Tena Rosser |
| Publisher | : Lippincott Williams & Wilkins |
| Total Pages | : 360 |
| Release | : 2007 |
| Genre | : Medical |
| ISBN | : 9780781778886 |
Pediatric Neurology for the Oral Boards: A Case-Based Review is the first pediatric neurology review book written specifically for neurology residents preparing for the oral boards. The book presents sixty cases with discussions structured according to the neurology oral boards format: localization of neurologic findings; differential diagnosis and most likely diagnosis; diagnostic workup; and patient management. The cases will help readers lay a foundation of knowledge in pediatric neurology and develop an organized approach to clinical decision-making. An introduction explains in detail what to expect on the examination and gives helpful hints on preparing for and taking the exam.
