Inherited Metabolic Diseases And The Brain
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Inherited Metabolic Diseases And The Brain
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Author : Jaak Jaeken
language : en
Publisher:
Release Date : 1993
Inherited Metabolic Diseases And The Brain written by Jaak Jaeken and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1993 with categories.
Inherited Metabolic Disease In Adults
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Author : Carla E. M. Hollak
language : en
Publisher: Oxford University Press
Release Date : 2016
Inherited Metabolic Disease In Adults written by Carla E. M. Hollak and has been published by Oxford University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2016 with Medical categories.
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.
Inborn Metabolic Brain Diseases Advances In Research And Application 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-26
Inborn Metabolic Brain Diseases Advances In Research And Application 2012 Edition written by and has been published by ScholarlyEditions this book supported file pdf, txt, epub, kindle and other format this book has been release on 2012-12-26 with Medical categories.
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/.
Movement Disorders And Inherited Metabolic Disorders
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Author : Darius Ebrahimi-Fakhari
language : en
Publisher:
Release Date : 2020
Movement Disorders And Inherited Metabolic Disorders written by Darius Ebrahimi-Fakhari and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020 with categories.
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.
Diseases Of The Brain Head And Neck Spine 2020 2023
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Author : Juerg Hodler
language : en
Publisher: Springer Nature
Release Date : 2020-02-14
Diseases Of The Brain Head And Neck Spine 2020 2023 written by Juerg Hodler and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-02-14 with Medical categories.
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.
Brain
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Author : N.R.R. Belton
language : en
Publisher: Springer
Release Date : 1983-02-28
Brain written by N.R.R. Belton and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 1983-02-28 with Medical categories.
Inherited Metabolic Diseases
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Author : Steve Hannigan
language : en
Publisher: CRC Press
Release Date : 2018-04-19
Inherited Metabolic Diseases written by Steve Hannigan and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2018-04-19 with Medical categories.
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.
Nutrition Management Of Inherited Metabolic Diseases
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Author : Laurie E. Bernstein
language : en
Publisher: Springer Nature
Release Date : 2022-06-14
Nutrition Management Of Inherited Metabolic Diseases written by Laurie E. Bernstein and has been published by Springer Nature this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-06-14 with Medical categories.
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.
Atlas Of Inherited Metabolic Diseases 3e
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Author : William Nyhan
language : en
Publisher: CRC Press
Release Date : 2011-12-30
Atlas Of Inherited Metabolic Diseases 3e written by William Nyhan and has been published by CRC Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-12-30 with Medical categories.
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
Inherited Metabolic Epilepsies
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Author : Phillip L. Pearl, MD
language : en
Publisher: Springer Publishing Company
Release Date : 2017-12-20
Inherited Metabolic Epilepsies written by Phillip L. Pearl, MD and has been published by Springer Publishing Company this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-12-20 with Medical categories.
"This book fills an important and unique niche in pediatric neurology, and will be a frequently referenced textbook for all clinicians caring for children with epilepsy. It is well-organized and readable, and provides essential and up-to-date clinical data on these individually rare, but collectively more common, disorders." -Elaine Wirrell, MD, Neurology "Specialists in pediatric neurology, epilepsy, and biochemical genetics will find this volume to be indispensable for their daily practice. The organized approach to an incredibly complex set of disorders will also benefit trainees trying to make sense of the complex field and developing their own clinical approach, as knowledge about metabolic epilepsies continues to grow." -Carl E. Stafstrom, MD, PhD, Journal of Pediatric Epilepsy The continued explosion of information in neurogenetics and metabolism mandates increasing awareness of current diagnostic and therapeutic strategies in disease settings where prompt identification and intervention is crucial for a positive outcome. This thoroughly revised and greatly expanded new edition of the first book to bridge clinical epilepsy with inherited metabolic diseases brings together leading authorities to present state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. Inherited Metabolic Epilepsies, Second Edition contains 15 new chapters, and all existing chapters have been updated to reflect the latest science and clinical advances in this fast-moving field. New sections on basic and clinical science —covering energetics, metabolomics, pathways, the use of novel investigations like transcranial magnetic stimulation, neuropathology, and genomic technologies—supplement the disease-focused sections. Dedicated chapters focus on recently recognized disorders having novel therapeutic implications, pyridoxal-5-phosphate dependency, Menkes disease, and thiamine transporter deficiency. The book also includes new clinical applications of genomics and advanced generation gene sequencing in the diagnosis of inherited metabolic epilepsies. This readable, well-illustrated reference concludes with an updated clinical algorithm to aid physicians in screening and identifying suspected metabolic disorders and a collection of resources for families. Features Synthesizes cutting-edge diagnostic, clinical, and scientific information on epilepsy and inborn errors of metabolism Completely updated and expanded second edition contains the latest knowledge and 15 entirely new chapters Authored and edited by international experts in neurology, metabolic disorders, and genetics A readable and well-illustrated reference for clinicians Essential coverage of the new generation of genetic tests, which were not widely available or utilized when the first edition was published New chapter on inherited metabolic epilepsies in adult