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Society For The Study Of Inborn Errors Of Metabolism Ssiem
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Book Synopsis Society for the Study of Inborn Errors of Metabolism (SSIEM). by :
Download or read book Society for the Study of Inborn Errors of Metabolism (SSIEM). written by and published by . This book was released on with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: Features the Society for the Study of Inborn Errors of Metabolism (SSIEM) in England. the Society promotes the exchange of ideas between professional workers in different disciplines who are interested in inherited metabolic disease. Recounts the Society's history and provides information on its publications and annual symposium. Lists officers and posts contact information for the treasurer via street address, telephone and fax numbers, and e-mail. Links to other metabolic disease sites.
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
Download or read book Inherited Metabolic Disease in Adults written by Carla E. M. Hollak and published by Oxford University Press. This book was released on 2016 with total page 657 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis Vademecum Metabolicum by : Johannes Zschocke
Download or read book Vademecum Metabolicum written by Johannes Zschocke and published by Schattauer Verlag. This book was released on 2011 with total page 188 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Annual Symposium of the Society for the Study of Inborn Errors of Metabolism by : Society for the Study of Inborn Errors of Metabolism
Download or read book Annual Symposium of the Society for the Study of Inborn Errors of Metabolism written by Society for the Study of Inborn Errors of Metabolism and published by . This book was released on 2010 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
Download or read book Nutrition Management of Inherited Metabolic Diseases written by Laurie E. Bernstein and published by Springer. This book was released on 2015-06-03 with total page 363 pages. Available in PDF, EPUB and Kindle. Book excerpt: This up-to-date reference on the nutrition management of inherited metabolic diseases (IMD) 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 addressed. The book is based on 7 years of lectures delivered through Metabolic University – an interactive, didactic program designed to provide training to dietitians who work with individuals with IMD. This book provides the basic information required to manage nutrition care and is a resource for clinicians new to this complex field.
Book Synopsis Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases by : Nenad Blau
Download or read book Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases written by Nenad Blau and published by Springer. This book was released on 2014-07-08 with total page 880 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book, combining and updating two previous editions, is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases. The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for both clinicians and laboratory personnel. Reference laboratory data are scattered, and clinical descriptions may be obscure. The Physician’s Guide documents the features of more than five hundred conditions, grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). Relevant clinical findings are provided and pathological values for diagnostic metabolites highlighted. Guidance on appropriate biochemical genetic testing is provided. Established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring. The authors are acknowledged experts, and the book will be a valuable desk reference for all who deal with inherited metabolic diseases.
Book Synopsis Methodologies for Metabolomics by : Norbert W. Lutz
Download or read book Methodologies for Metabolomics written by Norbert W. Lutz and published by Cambridge University Press. This book was released on 2013-01-21 with total page 641 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolomics, the global characterisation of the small molecule complement involved in metabolism, has evolved into a powerful suite of approaches for understanding the global physiological and pathological processes occurring in biological organisms. The diversity of metabolites, the wide range of metabolic pathways and their divergent biological contexts require a range of methodological strategies and techniques. Methodologies for Metabolomics provides a comprehensive description of the newest methodological approaches in metabolomic research. The most important technologies used to identify and quantify metabolites, including nuclear magnetic resonance and mass spectrometry, are highlighted. The integration of these techniques with classical biological methods is also addressed. Furthermore, the book presents statistical and chemometric methods for evaluation of the resultant data. The broad spectrum of topics includes a vast variety of organisms, samples and diseases, ranging from in vivo metabolomics in humans and animals to in vitro analysis of tissue samples, cultured cells and biofluids.
Author :Society for the Study of Inborn Errors of Metabolism. Symposium Publisher : ISBN 13 :9781870617079 Total Pages :281 pages Book Rating :4.6/5 (17 download)
Book Synopsis Abstracts of the 32nd SSIEM Annual Symposium, 1994 by : Society for the Study of Inborn Errors of Metabolism. Symposium
Download or read book Abstracts of the 32nd SSIEM Annual Symposium, 1994 written by Society for the Study of Inborn Errors of Metabolism. Symposium and published by . This book was released on 1994 with total page 281 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Medico-Social Management of Inherited Metabolic Disease by : D.N. Raine
Download or read book Medico-Social Management of Inherited Metabolic Disease written by D.N. Raine and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 309 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Book Synopsis The Eye in Pediatric Systemic Disease by : Alex V. Levin
Download or read book The Eye in Pediatric Systemic Disease written by Alex V. Levin and published by Springer. This book was released on 2017-06-20 with total page 836 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the first of its kind to describe ocular manifestations of systemic diseases in the pediatric population. Written and edited by experts in areas of pediatric ophthalmology and genetics, this new text covers a multitude of topics in a comprehensive and cataloged fashion. The Eye in Pediatric Systemic Disease is designed as an in-depth and up-to-date reference work that is heavily referenced, thus allowing the reader ready access to the international supporting literature. Everything from ocular manifestations of hematologic disease, child abuse, psychiatric diseases, renal disorders, and vitamin disorders are covered, allowing readers to know what to look for in the eyes of children with a given systemic disorder. The Eye in Pediatric Systemic Disease is written in language that is accessible to ophthalmologists and pediatricians, as well as allied health care professionals.
Book Synopsis Inherited Metabolic Diseases and the Brain by : R. Angus Harkness
Download or read book Inherited Metabolic Diseases and the Brain written by R. Angus Harkness and published by Springer. This book was released on 1994-03-31 with total page 200 pages. Available in PDF, EPUB and Kindle. Book excerpt: The articles in Issue 4 of JOURNAL OF INHERITED METABOLIC DISEASE, Volume 16 (1993) contain the main lectures presented at the 30th Annual Symposium of the Society for the Study of Inborn Errors of Metabolism (SSIEM), Leuven, Belgium, 1992, which was dedicated to `Inherited Metabolic Diseases and the Brain'. Topics discussed included: Inborn errors and brain fluids, neurotransmitter disorders, inborn errors and demyelination, and recent developments. Participants from many countries provided a state-of-the-art review which will be of interest to clinicians and research workers alike in many different disciplines.
Book Synopsis Inherited Metabolic Diseases by : Georg F. Hoffmann
Download or read book Inherited Metabolic Diseases written by Georg F. Hoffmann and published by Springer Science & Business Media. This book was released on 2009-11-21 with total page 380 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Author :Society for the Study of Inborn Errors of Metabolism. Symposium Publisher : ISBN 13 :9781870617000 Total Pages :101 pages Book Rating :4.6/5 (17 download)
Book Synopsis Abstracts of the 25th SSIEM Annual Symposium, 1987 by : Society for the Study of Inborn Errors of Metabolism. Symposium
Download or read book Abstracts of the 25th SSIEM Annual Symposium, 1987 written by Society for the Study of Inborn Errors of Metabolism. Symposium and published by . This book was released on 1987 with total page 101 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia by : G.M. Addison
Download or read book Practical Developments in Inherited Metabolic Disease: DNA Analysis, Phenylketonuria and Screening for Congenital Adrenal Hyperplasia written by G.M. Addison and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 346 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Inborn Errors of Skin, Hair and Connective Tissue by : J.B. Holton
Download or read book Inborn Errors of Skin, Hair and Connective Tissue written by J.B. Holton and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 285 pages. Available in PDF, EPUB and Kindle. Book excerpt: Following the pattern of previous years the 11th symposium of the S.S.I.E.M. held in the beautiful sylvan surroundings of Sussex Univ ersity, concentrated on a relatively small section of the field of inborn errors. The subject chosen-Inborn Errors of Skin, Hair and Con nective Tissue, was a highly topical one. Intensive research during the last few years particularly on the structure and disorders of connective tissue has considerably advanced our knowledge on this subject. We believe that the range of diseases covered, and the depth in which they were discussed, made this meeting unique. The proceedings contain much original material and reference information which should make them an invaluable addition to the literature on metabolic disorders. The work involved is multi-disciplinary involving among others physicists, organic chemists, biochemists, clinical chemists, paedia tricians, physicians, geneticists and neurologists. The bringing together of workers of many disciplines to contribute to the particular subject under discussion at our Symposia has always been an important objective of the Society. In this case we were very fortunate in gathering together experts from all the fields mentioned above. In particular we were honoured that Professor A. Dorfman of Chicago could accept our invitation to give the second Milner Lecture. We were also privileged to have some excellent contributions from the research scientists on whom we must rely for our ultimate understanding of the diseases, and rational approach to treatment.
Book Synopsis Atlas of Metabolic Diseases Second edition by : William Nyhan
Download or read book Atlas of Metabolic Diseases Second edition written by William Nyhan and published by CRC Press. This book was released on 2005-08-26 with total page 801 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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, auth
Book Synopsis 37th Annual Symposium of the SSIEM by : Society for the Study of Inborn Errors of Metabolism
Download or read book 37th Annual Symposium of the SSIEM written by Society for the Study of Inborn Errors of Metabolism and published by . This book was released on 2000 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt:
