Congenital Metabolic Diseases
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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.
Inborn Metabolic Diseases
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Author : K. Tada
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-03-14
Inborn Metabolic Diseases written by K. Tada 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 2013-03-14 with Medical categories.
Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Medico Social Management Of Inherited Metabolic Disease
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Author : D.N. Raine
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Medico Social Management Of Inherited Metabolic Disease written by D.N. Raine 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 2012-12-06 with Medical categories.
The study of inherited metabolic disease became a subject of more than academic interest in 1953 when Bickel, Gerrard and Hickmans dis covered that the totally disabling consequences of phenylketonuria could be prevented if treatment was instituted in the first months of life. This required the widespread screening of all newborn babies and 7 years later this had been successfully achieved in the United King dom. The next 10 years was a period of consolidation: screening methods were improved and extended to include other disorders; treatment of phenylketonuria was vastly improved with the stimulus of the increasing numbers of patients being detected, and research into new forms of therapy for some of the other disorders being detected has been initiated. The success of this scheme is illustrated by the remarkable achievement reported by the Phenylketonuria Registry referred to in the present volume. But at what cost has this progress been made? It is unnecessary to discuss the financial cost for many of the developments would not have been started if their economic value in the system of health care had not been unequivocally established.
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.
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.
Inborn Metabolic Diseases
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Author : Jean-Marie Saudubray
language : en
Publisher: Springer Science & Business Media
Release Date : 2011-11-16
Inborn Metabolic Diseases written by Jean-Marie Saudubray 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 2011-11-16 with Medical categories.
Being up to Date: Status Quo and Trends of Treatment For those involved in the identification and management of patients with inborn errors of metabolism, this book is now recognised as the standard textbook in this interdisciplinary field. It has proved to be indispensable for professionals in specialities ranging from pediatrics, neonatology, pathological biochemistry and genetics to neurology, internal medicine, nursing, dietetics and psychology. This 5th edition has been extensively revised and updated. What ́s new - Additional chapter focusing on inborn errors affecting adults, particularly the late neurological presentations - Numerous updates on diagnostic procedures and treatment - Newly discovered disorders. As with previous editions, the book opens with a section presenting the clinical approach to inborn metabolic diseases for those cases in which a diagnosis is being sought. This now includes a chapter on the clinical presentation of metabolic diseases in the older age range, using an analogous structure. If a particular diagnosis is already suspected, the reader may refer to the following sections of the book containing general chapters on diagnostic procedures and treatment, and on specific groups of disorders. As with earlier editions, the chapters have been written by authors who are internationally recognised experts on their subjects. They provide information in a clear, relevant and concise manner using a coherent structure.
Congenital Metabolic Diseases
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Author : Raul A. Wapnir
language : en
Publisher: Marcel Dekker
Release Date : 1985
Congenital Metabolic Diseases written by Raul A. Wapnir and has been published by Marcel Dekker this book supported file pdf, txt, epub, kindle and other format this book has been release on 1985 with Metabolism, Inborn errors of categories.
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.
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
Inborn Metabolic Diseases
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Author : John Fernandes
language : en
Publisher: Springer
Release Date : 2000-07-25
Inborn Metabolic Diseases written by John Fernandes and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2000-07-25 with Medical categories.
This clinical book facilitates the diagnosis of metabolic diseases. Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms necessary for establishing the diagnosis and differential diagnosis. The metabolic derangement is described in great detail and illustrated in a uniform way, thus affording clarification and better understanding of the treatment. The topics covered range from the clinical approach to metabolic diseases, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.