Journal Of Inherited Metabolic Disease
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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.
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 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.
Studies In Inherited Metabolic Disease
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Author : G.M. Addison
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Studies In Inherited Metabolic Disease written by G.M. Addison 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.
With improved control of most environmental causes of disease, genetic illness has assumed a primary importance in the causation of handicap and mortality in all age groups. At present, effective therapy is available for relatively few genetic conditions and prenatal diagnosis is an important option for couples at high risk. The task of providing prenatal diagnosis for these couples requires a team approach between clinicians and scientists, and is complicated by the large number of diverse conditions and by the rapid developments in the field, both obstetric in relation to imaging and tissue sampling methods and genetic in relation to techniques for analysis. Against this background, the aim of the Symposium was to provide an overview of the current status of prenatal and perinatal diagnosis of inborn errors of metabolism. The format consisted of the usual mixture of specific invited overviews and free communications in either oral or poster form. The invited overviews, as can be seen from this publication, covered a wide range, from accepted methods for neonatal diagnosis and screening to newer techniques for prenatal diagnosis and likely future developments with respect to gene therapy. Similarly, the oral com munications included reviews of experience with biochemical analysis of chorionic villus sampling from major centres, more specific examples of progress towards the basic defect in Batten's disease and Canavan's disease, and prospects for effective therapy in Menkes' disease and a lipid myopathy.
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.
Studies In Inherited Metabolic Disease
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Author : R.J. Pollitt
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-11-11
Studies In Inherited Metabolic Disease written by R.J. Pollitt 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 2013-11-11 with Medical categories.
captured for the published proceedings. Nevertheless, the two Supplements to this Journal (also available together as a hard-backed book) do, over the years, embrace many of the major aspects of the study of inborn errors of metabolism and can, particularly with the Short Communications section, be used as a way into the literature on specific new topics. We hope that with judicious selection of material these supplements will continue to provide, as did the Society's earlier annual publications, a balanced record of the present state of the subject in all its facets, a record of interest to those working in allied fields as well as to the specialist. R. J. Pollitt G. M. Addison R. A. Harkness The papers listed below were also presented at the meeting. Scripts were not available by the time of publication. 1. Tangier disease and related disorders of apolipoprotein Al. G. Assmann, Munster. 2. Contribution to Ethics Symposium by M. E. Pembrey, London.
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.
Inherited Metabolic Disease New Insights For The Healthcare Professional 2011 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-01-09
Inherited Metabolic Disease New Insights For The Healthcare Professional 2011 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 2012-01-09 with Medical categories.
Inherited Metabolic Disease: New Insights for the Healthcare Professional: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inherited Metabolic Disease in a compact format. The editors have built Inherited Metabolic Disease: New Insights for the Healthcare Professional: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inherited Metabolic Disease 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 Inherited Metabolic Disease: New Insights for the Healthcare Professional: 2011 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/.
Transport And Inherited Disease
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Author : C. Toothill
language : en
Publisher: Springer Science & Business Media
Release Date : 2012-12-06
Transport And Inherited Disease written by C. Toothill 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.
Many clinical problems of transport have been known for decades, par ticularly those disorders involving the liver and kidney. As a result of the dramatic increase in interest in transport at the membrane level the Society devoted its Seventeenth Symposium, held at Leeds during September 1979, to Transport and Inherited Disease, the result of that meeting forming the basis of this monograph. For the occasion over a hundred members and guests of the Society were joined by many invited speakers from Europe and the USA to discuss this rapidly developing field with special reference to the direct interests of the Society - in herited metabolic disease. The major theme of the meeting was opened with formal scientific presentations on membrane structure, synthesis and the regulation of epithelial transport. These were followed by discussions of specific prob lems of transport in brain, kidney and red blood cells. Almost all of these later lectures had clinical applications with cystic fibrosis and nephro genic diabetes insipidus featuring as examples of the common inherited diseases. The Hudson Memorial Lecture was delivered by Professor H. Bickel (Heidelberg). This outstanding review lecture on 'Phenylketonuri- past, present and future' is reproduced in the Journal of the Society - the Journal of Inherited Metabolic Disease (Volume 3 No.4, pp.123-132). xiii xiv PREFACE The members' papers (both oral and poster) are also being reprinted in various issues of the Journal (published by MTP Press Ltd., Lancaster, UK).
Inherited Metabolic Disease New Insights For The Healthcare Professional 2012 Edition
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Author :
language : en
Publisher: ScholarlyEditions
Release Date : 2012-12-10
Inherited Metabolic Disease New Insights For The Healthcare Professional 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 2012-12-10 with Medical categories.
Inherited Metabolic Disease: New Insights for the Healthcare Professional / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inherited Metabolic Disease in a concise format. The editors have built Inherited Metabolic Disease: New Insights for the Healthcare Professional / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inherited Metabolic Disease 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 Inherited Metabolic Disease: New Insights for the Healthcare Professional / 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/.