Inherited Disorders Of Carbohydrate Metabolism
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Inherited Disorders Of Carbohydrate Metabolism
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Author : D. Burman
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Inherited Disorders Of Carbohydrate Metabolism written by D. Burman 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 sixteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism was held in Bristol from 12th to 14th July, 1978. About 25 invited speakers and 150 participants came from many parts of Europe and North America to consider the topic, 'Inherited Disorders of Carbohydrate Metabolism'. Although some aspects of these disorders have formed part of the programme of previous symposia organized by the Socie ty, this was the first attempt to discuss them in a systematic manner. The subject, carbohydrate disorders, embraces both familiar and well documented conditions and some lesser known aspects of genetic disease. In all of these there remains much to be learnt about clinical and laboratory diagnosis, treatment, biochemical screening and pathogenesis. Thus one aim of the Society, to combine clinical and scientific interest, can rarely have been better achieved in a single symposium. Since the programme included diseases from six different areas of car bohydrate metabolism and contained so many distinguished speakers, it is impossible to highlight the more important aspects of this symposium within a short space. Each section made a notable contribution to knowledge and, when time was available, lively discussions ensued which have been recorded in the book. However, we wish to mention our two special lectures, because they recognise people to whom the Society owes a great deal. The Milner lecture has been given for the past 6 years as a tribute to Mr J.
Inherited Disorders Of Carbohydrate Metabolism
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Author : David Burman
language : en
Publisher:
Release Date : 1980
Inherited Disorders Of Carbohydrate Metabolism written by David Burman and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1980 with categories.
Inherited Disorders Of Carbohydrate Metabolism
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Author :
language : en
Publisher:
Release Date : 2014
Inherited Disorders Of Carbohydrate Metabolism written by and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2014 with categories.
Inherited Disorders Of Carbohydrate And Glycoprotein Metabolism
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Author : Society for the Study of Inborn Errors of Metabolism
language : en
Publisher:
Release Date : 1990
Inherited Disorders Of Carbohydrate And Glycoprotein Metabolism written by Society for the Study of Inborn Errors of Metabolism and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 1990 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.
Oxford Textbook Of Endocrinology And Diabetes
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Author : John A.H. Wass
language : en
Publisher: Oxford University Press, USA
Release Date : 2011-07-28
Oxford Textbook Of Endocrinology And Diabetes written by John A.H. Wass and has been published by Oxford University Press, USA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2011-07-28 with Medical categories.
Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.
Advances In Inborn Errors Carbohydrate Metabolism Research And Treatment 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-26
Advances In Inborn Errors Carbohydrate Metabolism Research And Treatment 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.
Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inborn Errors Carbohydrate Metabolism in a concise format. The editors have built Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Carbohydrate Metabolism 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 Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment / 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/.
Clinical Paediatric Dietetics
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Author : Vanessa Shaw
language : en
Publisher: John Wiley & Sons
Release Date : 2020-06-24
Clinical Paediatric Dietetics written by Vanessa Shaw and has been published by John Wiley & Sons this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-06-24 with Medical categories.
Clinical Paediatric Dietetics, Fifth Edition continues to provide a very practical approach to dietary management of children with an extensive range of disorders. Thoroughly revised to reflect the most recent scientific and medical literature, this new edition proves to be an indispensable guide for both acute and community-based healthcare professionals. New and expanded content covering a range of disorders, treatments and guidelines has been introduced to the fifth edition, from diabetes technology and the ketogenic diet, to renal tubular disorders, refeeding syndrome, and blended diets in enteral nutrition. This authoritative volume: Supports contemporary evidence-based clinical practice Covers inherited metabolic disorders and diseases of all major organ systems Provides contributions from practising paediatric dietitians, academic research dietitians and a paediatric psychiatrist Includes worked examples, real-world case studies and easy-to-use tables Produced in collaboration with the British Dietetic Association (BDA) and the BDA Paediatric Specialist Group, Clinical Paediatric Dietetics is an invaluable resource for all healthcare practitioners caring for children.
Biomarkers In Inborn Errors Of Metabolism
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Author : Uttam Garg
language : en
Publisher: Elsevier
Release Date : 2017-06-07
Biomarkers In Inborn Errors Of Metabolism written by Uttam Garg and has been published by Elsevier this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-06-07 with Medical categories.
Biomarkers of Inborn Errors in Metabolism: Clinical Aspects and Laboratory Determination is structured around the new reality that laboratory testing and biomarkers are an integral part in the diagnosis and treatment of inherited metabolic diseases. The book covers currently used biomarkers as well as markers that are in development. Because biomarkers used in the initial diagnosis of disease may be different than the follow-up markers, the book also covers biomarkers used in both the prognosis and treatment of inherited metabolic disorders. With the introduction of expanded new-born screening for inborn metabolic diseases, an increasing numbers of laboratories are involved in follow-up confirmatory testing. The book provides guidance on laboratory test selection and interpreting results in patients with suspected inherited metabolic diseases. The book provides comprehensive guidance on patient diagnosis and follow-up through its illustrative material on metabolic pathways, genetics and pathogenesis, treatment and prognosis of inherited metabolic diseases, along with essential information on clinical presentation. Each chapter is organized with a uniform, easy-to-follow format: a brief description of the disorder and pathway; a description of treatment; biomarkers for diagnosis; biomarkers followed for treatment efficacy; biomarkers followed for disease progression; confounding conditions that can either: affect biomarker expression or mimic IEMs; other biomarkers: less established, future. Provides comprehensive information on the tests/biomarkers selection in newborn screening and follow-up of newborn screens Categorizes biomarkers into diagnostic markers, disease follow-up markers, and prognostic biomarkers Covers confounding factors that can alter biomarkers in the absence of inborn errors of metabolism Offers guidance on how to distinguish acquired causes from inborn errors of metabolism
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.