Atlas Of Inherited Metabolic Diseases
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Atlas Of Inherited Metabolic Diseases
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Author : William L Nyhan
language : en
Publisher: CRC Press
Release Date : 2020-07-14
Atlas Of Inherited Metabolic Diseases written by William L 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 2020-07-14 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 content is divided into sections of related disorders, including disorders of amino acid metabolism, lipid storage disorders, and mitochondrial diseases for ease of reference, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within the sections, each chapter deals with an individual disease, opening with a useful summary of major phenotypic expression including clear and helpful biochemical pathways, identifying for the reader exactly where the defect occurs. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis. Key Features • Fully updated to incorporate all new developments in the field • Brand new chapters cover methylmalonic aciduria of ACSF3 deficiency, branched chain keto acid dehydrogenase deficiency, serine deficiencies, purine nucleoside phosphorylase deficiency, antiquitin deficiency, and others • Excellent and detailed clinical descriptions, with numerous valuable hints and suggestions for management • Helpful explanatory algorithms and decision trees, and high-quality illustrative material including biochemical pathways and an unrivaled photographic collection, which enhance clinical applicability The fourth edition of this highly regarded book, authored by two of the foremost authorities in pediatric metabolic medicine, continues to provide incomparable insight into the problems associated with metabolic diseases and remains invaluable to pediatricians, geneticists, and general clinicians worldwide.
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
Atlas Of Metabolic Diseases Second Edition
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Author : William L Nyhan
language : en
Publisher: CRC Press
Release Date : 2005-08-26
Atlas Of Metabolic Diseases Second Edition written by William L 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 2005-08-26 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 second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Atlas Of Metabolic Diseases Second Edition
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Author : Bruce Barshop
language : en
Publisher:
Release Date : 2005
Atlas Of Metabolic Diseases Second Edition written by Bruce Barshop and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005 with 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 second edition of this highly regarded book, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Inherited Metabolic Diseases
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Author : Georg F. Hoffmann
language : en
Publisher: Springer Science & Business Media
Release Date : 2009-11-21
Inherited Metabolic Diseases written by Georg F. Hoffmann and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2009-11-21 with Medical categories.
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.
The Inherited Metabolic Diseases
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Author : John B. Holton
language : en
Publisher:
Release Date : 1994
The Inherited Metabolic Diseases written by John B. Holton and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1994 with Medical 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.
A Clinical Guide To Inherited Metabolic Diseases
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Author : Joe T. R. Clarke
language : en
Publisher: Cambridge University Press
Release Date : 2005-12-08
A Clinical Guide To Inherited Metabolic Diseases written by Joe T. R. Clarke and has been published by Cambridge University Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2005-12-08 with Medical categories.
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.
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.
Journal Of Inherited Metabolic Disease
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Author : A. Green
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-06-29
Journal Of Inherited Metabolic Disease written by A. Green and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-06-29 with Medical categories.
The articles in Issue 4 of Journal of Inherited Metabolic Disease, Vol. 14 (1991) contain the main lectures presented at the 28th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism, Birmingham, UK, 1990, which was dedicated to `The Liver and Inherited Metabolic Disease' with a half-day workshop on `Screening and Economics'. The subjects covered include metabolic functions of the liver, bile acids, alpha-1-antitrypsin deficiency, tyrosinaemia type I, Crigler-Najjar disease type I and Niemann-Pick disease type C, providing updates on a wide range of metabolic disorders and illustrating the importance of the complementary contributions from professionals in different disciplines. Also covered in detail is the exciting potential of liver transplantation as treatment for several inborn errors of metabolism. This state-of-the-art review will be of interest to clinicians and research workers alike.