Download or read book Phenylketonuria and Allied Metabolic Diseases written by John Adolph Anderson and published by . This book was released on 1967 with total page 258 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Phenylketonuria and Allied Metabolic Diseases written by John Adolph Anderson and published by . This book was released on 1967 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Phenylketonuria and Allied Metabolic Diseases written by and published by . This book was released on 1967 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: As clinical management of inherited metabolic diseases (IMDs) has improved, more patients affected by these conditions are surviving into adulthood. This trend, coupled with the widespread recognition that IMDs can present differently and for the first time during adulthood, makes the need for a working knowledge of these diseases more important than ever. Inherited Metabolic Disease in Adults offers an authoritative clinical guide to the adult manifestations of these challenging and myriad conditions. These include both the classic pediatric-onset conditions and a number of new diseases that can manifest at any age. It is the first book to give a clear and concise overview of how this group of conditions affects adult patients, a that topic will become a growing imperative for physicians across primary and specialized care.
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: In a field where even experts may find that years have elapsed since they last encountered a child with a given disorder, it is essential for the clinician to have a comprehensive source of practical and highly illustrated information covering the whole spectrum of metabolic disease to refer to. The second edition of this highly regarded book, auth
Download or read book The PKU Paradox written by Diane B. Paul and published by JHU Press. This book was released on 2013-12-01 with total page 316 pages. Available in PDF, EPUB and Kindle. Book excerpt: How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
Download or read book National Library of Medicine Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1965 with total page 1042 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Current Catalog written by National Library of Medicine (U.S.) and published by . This book was released on 1968 with total page 924 pages. Available in PDF, EPUB and Kindle. Book excerpt: First multi-year cumulation covers six years: 1965-70.
Download or read book Biochemical Aspects of Nervous Diseases written by J. Cumings and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 301 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within recent years basic knowledge concerning the chemistry, and the metabolic processes taking place in the brain, spinal cord, peripheral nerves and muscles has increased in a remarkable manner. As a consequence some very important books have been published both in America and in Europe in which some, at least, of this information has become available in an easily readable form to an ever increasing group of laboratory and scientific workers. The application of such studies in a variety of neurological diseases can now be made, thus making possible an explanation of many of the clinical and pathological peculiarities that have been known for decades. Although a few small manuals have already been published, combining both biochemical and clinical aspects of such disorders and these have been studied by neurologists and chemical pathologists throughout the world, yet a volume devoted exclusively to the biochemistry of neurological diseases has not yet been readily available. The present volume is an attempt to remedy this omission in relation to just a few of the conditions. Individual writers of each of the six chapters have been chosen who are intimately concerned both with biochemistry and with its application to disease in man. Each author has been responsible for the accuracy of his chapter together with appropriate references from the literature, but the Editor does not necessarily concur with all the opinions expressed by the authors.
Download or read book Biology of Brain Dysfunction written by Gerald E. Gaull and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 493 pages. Available in PDF, EPUB and Kindle. Book excerpt: The growth of neurochemistry. molecular biology, and biochemical genetics has led to a burgeoning of new information relevant to the pathogenesis of brain dysfunction. This explosion of exciting new information is crying out for collation and meaningful synthesis. In its totality, it defies systematic summa tion, and, of course, no one author can cope. Thus invitations for contributions were given to various experts in areas which are under active investigation, of current neurological interest, and pregnant. Although this project is relatively comprehensive, by dint of size. other topics might have been included; the selection was solely my responsibility. I believe systematic summation a virtual impossibility-indeed, hardly worth the effort. The attempt to assemble all of the sections involved in a large treatise with multiple authors inevitably results in untoward delays due to the difference in the rate at which various authors work. Therefore, the following strategy has been adopted: multiple small volumes and a relatively flexible format, with publication in order of receipt and as soon as enough chapters are assembled to make publication practical and economical. In this way, the time lag between the ideas and their emergence in print is the shortest.
Download or read book Molecularizing Biology and Medicine written by Soraya de Chadarevian and published by Taylor & Francis. This book was released on 2003-09-02 with total page 586 pages. Available in PDF, EPUB and Kindle. Book excerpt: The contributors present a coherent set of case studies of practices, technologies and strategies aimed at the isolation, investigation, manipulation, production, and uses of molecules including vitamins, hormones, blood products, antibiotics, and vaccines. These case studies examine how processes of molecularization were set in motion in the inter-war period, how they were used as a resource in the biomedical 'mobilization' of World War II, and how new alliances and strategies created as part of the war effort played a central role in the reorganisation of biomedicine in the post-war period.
Download or read book Public Health Reports written by and published by . This book was released on 1969 with total page 1182 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: The explosion of insights in the field of metabolic disease has shed new light on diagnostic as well as treatment options. ‘Inherited Metabolic Disease – A Clinical Approach’ is written with a reader-friendly consistent structure. It helps the reader to find the information in an easily accessible and rapid way when needed. Starting with an overview of the major groups of metabolic disorders it includes algorithms with questions and answers as well as numerous graphs, metabolic pathways, and an expanded index. Clinical and diagnostic details with a system and symptom based are given to facilitate an efficient and yet complete diagnostic work-up of individual patients. Further, it offers helpful advice for emergency situations, such as hypoglycemia, hyperammonemia, lactic acidosis or acute encephalopathy. Five different indices allow a quick but complete orientation for common important constellations. Last but not least, it has an appendix with a guide to rapid differential diagnosis of signs and symptoms and when not to suspect metabolic disease. It will help physicians to diagnose patients they may otherwise fail to diagnose and to reduce unnecessary referrals. For metabolic and genetic specialists especially the indices will be helpful as a quick look when being called for advice. It has all it needs to become a gold standard defining the clinical practice in this field.
Download or read book Advances in Human Genetics written by Harry Harris and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 325 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Genetic Screening for Inborn Errors of Metabolism written by Harvey L. Levy and published by . This book was released on 1975 with total page 116 pages. Available in PDF, EPUB and Kindle. Book excerpt:
