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Author : Jaak Jaeken
Publisher :
ISBN 13 :
Total Pages : 199 pages
Book Rating : 4.:/5 (355 download)
Download or read book Inherited Metabolic Diseases and the Brain written by Jaak Jaeken and published by . This book was released on 1993 with total page 199 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)
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.
Author : Juerg Hodler
Publisher : Springer Nature
ISBN 13 : 303038490X
Total Pages : 252 pages
Book Rating : 4.0/5 (33 download)
Download or read book Diseases of the Brain, Head and Neck, Spine 2020–2023 written by Juerg Hodler and published by Springer Nature. This book was released on 2020-02-14 with total page 252 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book offers an essential overview of brain, head and neck, and spine imaging. Over the last few years, there have been considerable advances in this area, driven by both clinical and technological developments. Written by leading international experts and teachers, the chapters are disease-oriented and cover all relevant imaging modalities, with a focus on magnetic resonance imaging and computed tomography. The book also includes a synopsis of pediatric imaging. IDKD books are rewritten (not merely updated) every four years, which means they offer a comprehensive review of the state-of-the-art in imaging. The book is clearly structured and features learning objectives, abstracts, subheadings, tables and take-home points, supported by design elements to help readers navigate the text. It will particularly appeal to general radiologists, radiology residents, and interventional radiologists who want to update their diagnostic expertise, as well as clinicians from other specialties who are interested in imaging for their patient care.
Author : Robert D. Stevens
Publisher : Cambridge University Press
ISBN 13 : 1107434424
Total Pages : 457 pages
Book Rating : 4.1/5 (74 download)
Download or read book Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.
Author : John B. Holton
Publisher :
ISBN 13 :
Total Pages : 616 pages
Book Rating : 4.3/5 (91 download)
Download or read book The Inherited Metabolic Diseases written by John B. Holton and published by . This book was released on 1994 with total page 616 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :
Publisher : ScholarlyEditions
ISBN 13 : 1481616544
Total Pages : 51 pages
Book Rating : 4.4/5 (816 download)
Download or read book Inborn Metabolic Brain Diseases—Advances in Research and Application: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 51 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn Metabolic Brain Diseases—Advances in Research and Application: 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inborn Metabolic Brain Diseases in a concise format. The editors have built Inborn Metabolic Brain Diseases—Advances in Research and Application: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Metabolic Brain Diseases in this eBook to be deeper than what you can access anywhere else, as well as consistently reliable, authoritative, informed, and relevant. The content of Inborn Metabolic Brain Diseases—Advances in Research and Application: 2012 Edition has been produced by the world’s leading scientists, engineers, analysts, research institutions, and companies. All of the content is from peer-reviewed sources, and all of it is written, assembled, and edited by the editors at ScholarlyEditions™ and available exclusively from us. You now have a source you can cite with authority, confidence, and credibility. More information is available at http://www.ScholarlyEditions.com/.
Author : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 377 pages
Book Rating : 4.3/5 (191 download)
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 377 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Author : Georg F. Hoffmann
Publisher : Springer
ISBN 13 : 3662494108
Total Pages : 605 pages
Book Rating : 4.6/5 (624 download)
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer. This book was released on 2016-09-20 with total page 605 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book focuses on clinical presentations that may be caused by inherited metabolic diseases. Its symptom- and system-based approach will help clinicians with and without detailed knowledge of human biochemistry in all specialties to reach a correct diagnosis and institute the optimal treatment program. The book summarizes the central elements of inherited metabolic diseases and describes clearly how to carry out an efficient yet complete diagnostic work-up, thereby guiding the clinician from the presenting symptoms and signs through to effective initial management. After an introduction to the different disorders, the book explains when to consider an inborn metabolic error and which initial tests to order. Core aspects such as structured communication, guidelines, transition, pregnancy, maternal care and how to respond to various medical emergencies are covered. Therapeutic concepts such as dietary treatment are delineated and practical advice provided on the quite different treatment approaches required for individual diseases. An extensive section structured according to organ systems outlines the correct approach in the context of specific symptoms and signs. The value of each of the potential investigations is explained, with precise advice on the interpretation of results. The inclusion of algorithms, tables, lists, and charts facilitates rapid decision making and information retrieval, and the appendices include a helpful guide to differential diagnosis based on clinical and biochemical phenotypes. This new updated edition of Inherited Metabolic Diseases will be an invaluable aid for the busy clinician and an excellent quick reference for metabolic and genetic specialists.
Author : Darius Ebrahimi-Fakhari
Publisher :
ISBN 13 : 9781108840026
Total Pages : 427 pages
Book Rating : 4.8/5 (4 download)
Download or read book Movement Disorders and Inherited Metabolic Disorders written by Darius Ebrahimi-Fakhari and published by . This book was released on 2020 with total page 427 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited metabolic movement disorders are a significant and rapidly evolving field of study, linking two subspecialty areas of childhood-onset movement disorders and inborn errors of metabolism. Increasing the chance of early recognition of inherited metabolic movement disorders can have significant therapeutic implications for patients. Containing information on new disorders of post-translational modification and autophagy and their identification and treatment, there is thorough coverage of disorders of amino acids, energy metabolism, and lysosomal storage, amongst others. This key resource explores future directions in the field including next-generation genetic sequencing and novel therapeutic approaches such as deep brain stimulation. Supplementary videos are available on Cambridge Core, accessible via the code printed inside the cover. This essential text bridges the gap in communication between experts in genetic-metabolic medicine and movement disorder neurology. With an emphasis on treatable conditions that should not be missed, this volume guides you through various disorders from a clinical, biochemical and genetic perspective.
Author : Gilles Lyon
Publisher : McGraw Hill Professional
ISBN 13 : 0071491996
Total Pages : 553 pages
Book Rating : 4.0/5 (714 download)
Download or read book Neurology of Hereditary Metabolic Diseases of Children: Third Edition written by Gilles Lyon and published by McGraw Hill Professional. This book was released on 2010-05-16 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: The expert, up-to-date guidance you need to identify, understand, and treat neurogenetic disorders in children Written in a readily-accessible, highly-readable style, this unique reference offers a sound starting point and clinical step-by-step approach to treating the complex and often baffling neurogenetic diseases found in children. Conveniently organized by age groups from prenatal diagnosis to neonate to childhood, each chapter begins by describing symptoms (similar to the way a patient would present), and then guides you through confirming the diagnosis and choosing the appropriate course of therapy. Completely updated to reflect the significant advances made following the discovery of the DNA sequence on the human genome, the Third Edition of Neurology of Hereditary Metabolic Diseases of Children clarifies the complicated genetics and biochemistry of these illnesses and will prove to be invaluable to the non-specialist and specialist alike. New to the Third Edition: Tables categorizing diseases by mechanisms Treatment for disorders that previously had no known treatment options Thorough discussion of new molecular, biochemical, and brain imaging tests - and how to select the one most likely to reveal a particular disease Case examples with clinical pearls Web sites and contact information for patient support groups
Author : Steve Hannigan
Publisher : CRC Press
ISBN 13 : 131534727X
Total Pages : 184 pages
Book Rating : 4.3/5 (153 download)
Download or read book Inherited Metabolic Diseases written by Steve Hannigan and published by CRC Press. This book was released on 2018-04-19 with total page 184 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inherited Metabolic Diseases are common enough for health, social service and education professionals to encounter them periodically, but rare enough for them to be poorly understood. They severely affect up to 1 in 10,000 people, and lead to a wide range of special needs in care and education. This guide provides specialist information on metabolic diseases for the non-specialist. In a concise, accessible and family-friendly format, each entry lists the names by which a condition is known, and explains the genetic causes of the disease, the physical effects, the patient's symptoms, and available treatments. Key diseases from all ten major groups of metabolic disorders are described, and all entries have been reviewed by Specialist Advisers. The work has been coordinated by the charity Climb, Children Living with Inherited Metabolic Diseases. This uniquely comprehensive source of information is a vital reference for hospital doctors including paediatricians, general practitioners, nurses and other health professionals, social service and education staff and managers, and the families and carers of children with the conditions.
Author : Néstor Gálvez-Jiménez
Publisher : Cambridge University Press
ISBN 13 : 1139495755
Total Pages : 351 pages
Book Rating : 4.1/5 (394 download)
Download or read book Uncommon Causes of Movement Disorders written by Néstor Gálvez-Jiménez and published by Cambridge University Press. This book was released on 2011-05-12 with total page 351 pages. Available in PDF, EPUB and Kindle. Book excerpt: A large number of neurological conditions result in abnormal movements of the body; these are often characterized by changes in coordination and altered speed of voluntary movement. Many obscure diseases, conditions and environmental insults can cause movement disorders but these are often overlooked. This volume expands and differentiates the many varied clinical presentations of movement disorders. Written by an international team of authors, including some of the most prominent clinicians in the field, disorders are defined and expanded in a clinically useful manner. Pathophysiological theories, genetic discoveries, new classifications, differential diagnoses and therapies are discussed extensively. Uncommon Causes of Movement Disorders provides a broad and comprehensive review of the field, concentrating on conditions infrequently seen but essential for practitioners to recognize in order to implement appropriate management. This is a key text for movement disorders specialists and general neurologists at all stages of their career.
Author : Laurie E. Bernstein
Publisher : Springer Nature
ISBN 13 : 3030945103
Total Pages : 415 pages
Book Rating : 4.0/5 (39 download)
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer Nature. This book was released on 2022-06-14 with total page 415 pages. Available in PDF, EPUB and Kindle. Book excerpt: This text presents a compilation of topics that have been taught at Metabolic University (MU), an interactive, didactic educational program that has trained over 600 metabolic dietitians/nutritionists, physicians, nurses and genetic counselors. This book was created in 2014 for the metabolic community. The 1st edition contains only subject matter covered at Metabolic University; therefore, it is not a comprehensive treatise on Inherited Metabolic Disorders (IMD) but rather a text on the most frequently encountered challenges in IMD nutrition. Each chapter in the book highlights principles of nutrition management, how to initiate a diet, and biomarkers to monitor the diet. Recognizing that there are variations in practice, this book addresses that the key to management lies in the understanding how the inactivity of an enzyme in a metabolic pathway determines which components of the diet must be restricted and which must be supplemented as well as the monitoring of appropriate biomarkers to make diet adjustments and ensure the goals of therapy are met The 2nd edition is an updated and more extensive version covering the nutrition management of IMD, and covers a wide range of these disorders, including phenylketonuria and other aminoacidopathies, organic acidemias, urea cycle disorders, fatty acid oxidation disorders, galactosemia and glycogen storage diseases. Guidance is also provided on laboratory evaluations and biochemical testing and monitoring. Topics such as newborn screening for IMD, as well as nutrition management during pregnancy and transplantation, are also addressed. In addition, current medical management therapies is included.
Author : Juan M. Pascual
Publisher : Cambridge University Press
ISBN 13 : 1107042054
Total Pages : 507 pages
Book Rating : 4.1/5 (7 download)
Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.
Author : Joe T. R. Clarke
Publisher : Cambridge University Press
ISBN 13 : 1139447181
Total Pages : 360 pages
Book Rating : 4.1/5 (394 download)
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Author : William Nyhan
Publisher : CRC Press
ISBN 13 : 1444149482
Total Pages : 889 pages
Book Rating : 4.4/5 (441 download)
Download or read book Atlas of Inherited Metabolic Diseases 3E written by William Nyhan and published by CRC Press. This book was released on 2011-12-30 with total page 889 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 third edition of this highly regarded book, autho
Author : Jean-Marie Saudubray
Publisher : Springer
ISBN 13 : 3662497719
Total Pages : 658 pages
Book Rating : 4.6/5 (624 download)
Download or read book Inborn Metabolic Diseases written by Jean-Marie Saudubray and published by Springer. This book was released on 2016-11-10 with total page 658 pages. Available in PDF, EPUB and Kindle. Book excerpt: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
