Medico Social Management Of Inherited Metabolic Disease

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Medico-Social Management of Inherited Metabolic Disease

Author : D.N. Raine
Publisher : Springer Science & Business Media
ISBN 13 : 9401161739
Total Pages : 309 pages
Book Rating : 4.4/5 (11 download)

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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.

Medico-social Management of inherited metabolic disease

Author : Dennis Noel Raine
Publisher :
ISBN 13 : 9789401161749
Total Pages : 324 pages
Book Rating : 4.1/5 (617 download)

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Book Synopsis Medico-social Management of inherited metabolic disease by : Dennis Noel Raine

Download or read book Medico-social Management of inherited metabolic disease written by Dennis Noel Raine and published by . This book was released on 1977 with total page 324 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Medico-Social Management of Inherited Metabolic Disease

Author : D. N. Raine
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (141 download)

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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 . This book was released on 1977 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Nutrition Management of Inherited Metabolic Diseases

Author : Laurie E. Bernstein
Publisher : Springer
ISBN 13 : 3319146211
Total Pages : 377 pages
Book Rating : 4.3/5 (191 download)

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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 377 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.

Inherited Metabolic Disease in Adults

Author : Carla E. M. Hollak
Publisher : Oxford University Press
ISBN 13 : 0199972133
Total Pages : 657 pages
Book Rating : 4.1/5 (999 download)

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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.

Inherited Metabolic Diseases

Author : Georg F. Hoffmann
Publisher : Springer Science & Business Media
ISBN 13 : 3540747230
Total Pages : 380 pages
Book Rating : 4.5/5 (47 download)

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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.

Nutrition Management of Patients with Inherited Metabolic Disorders

Author : Acosta
Publisher : Jones & Bartlett Publishers
ISBN 13 : 1449617999
Total Pages : 489 pages
Book Rating : 4.4/5 (496 download)

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Book Synopsis Nutrition Management of Patients with Inherited Metabolic Disorders by : Acosta

Download or read book Nutrition Management of Patients with Inherited Metabolic Disorders written by Acosta and published by Jones & Bartlett Publishers. This book was released on 2010-10-22 with total page 489 pages. Available in PDF, EPUB and Kindle. Book excerpt: 5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases

Author : Nenad Blau
Publisher : Springer
ISBN 13 : 3642403379
Total Pages : 880 pages
Book Rating : 4.6/5 (424 download)

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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.

Inborn Errors of Metabolism in Humans

Author : F. Cockburn
Publisher : Springer Science & Business Media
ISBN 13 : 940097325X
Total Pages : 298 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Inborn Errors of Metabolism in Humans by : F. Cockburn

Download or read book Inborn Errors of Metabolism in Humans written by F. Cockburn and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 298 pages. Available in PDF, EPUB and Kindle. Book excerpt:

The Cultured Cell and Inherited Metabolic Disease

Author : R. Angus Harkness
Publisher : Springer Science & Business Media
ISBN 13 : 9401166277
Total Pages : 213 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis The Cultured Cell and Inherited Metabolic Disease by : R. Angus Harkness

Download or read book The Cultured Cell and Inherited Metabolic Disease written by R. Angus Harkness and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 213 pages. Available in PDF, EPUB and Kindle. Book excerpt: The use of cultured cells in the clinical diagnosis of hereditary metabolic dis ease is a rapidly developing subject to which many different disciplines have brought their expertise and knowledge. A number of scientists who have in dividually contributed to the growth of the subject gave invited papers at the Fourteenth Symposium of the Society for the Study of Inborn Errors of Metabolism in the University of Edinburgh on 13-16th July, 1976. These papers form the basis of this monograph which brings together contributions from the basic sciences and from physicians concerned primarily with human disease. The cross-fertilization produced by this interdisciplinary communica tion was invaluable to those trying to understand and overcome diagnostic problems posed by hereditary metabolic disease. Cell culture methods and cell preservation techniques were described by D. G. Harnden and D. E. Pegg; Dr T. Elsdale outlined some of the factors which control in vitro cell growth and division. Cell culture methods and cryopreser vation techniques have allowed the wide distribution of biochemically abnor mal cells and their study over long periods of time. It is also evident that when a defect which produces severe metabolic disorder in man can be studied in the laboratory using isolated cell cultures a wide variety of investigative procedures can be focused on to the cellular defect without distress or discomfort to the patient or relatives.

Genetic and Metabolic Disease in Pediatrics

Author : June K. Lloyd
Publisher : Butterworth-Heinemann
ISBN 13 : 1483161013
Total Pages : 335 pages
Book Rating : 4.4/5 (831 download)

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Book Synopsis Genetic and Metabolic Disease in Pediatrics by : June K. Lloyd

Download or read book Genetic and Metabolic Disease in Pediatrics written by June K. Lloyd and published by Butterworth-Heinemann. This book was released on 2014-04-24 with total page 335 pages. Available in PDF, EPUB and Kindle. Book excerpt: Genetic and Metabolic Disease in Pediatrics is a compendium of papers that discusses the problems of inborn diseases in terms of homeostasis. One paper traces "backward" from the disease phenotype to discover and investigate the gene, as well as moves "forward" from mutation in DNA to discover phenotypes or proteins connected with the disease. Specific genes are assigned to particular places (loci) on chromosomes that can manifest the presence or type of disease. Another paper examines a classical disease—osteogenesis imperfecta—pointing out that the aberrant collagen of osteogenesis imperfecta reflects mutation at chromosomes 7 and 17. Another paper shows that in osteogenesis imperfecta, Mendelian phenotypes lead to genes and their products as being involved in critical aspects of protein traffic in human cells. Several papers examine the inborn errors of metabolism covering the lacticacidemias, urea synthesis, the hyperphenylalaninaemias, and the hyperlipidaemias. Other papers investigate the effects of metabolic dishomeostasis caused by variant maternal genotypes on fetal development, the "androgen pathway, its known Mendelian variants

Studies in Inherited Metabolic Disease

Author : R.J. Pollitt
Publisher : Springer Science & Business Media
ISBN 13 : 9400912595
Total Pages : 279 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Studies in Inherited Metabolic Disease by : R.J. Pollitt

Download or read book Studies in Inherited Metabolic Disease written by R.J. Pollitt and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 279 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Genetic Research in India

Author : Ishwar C. Verma
Publisher :
ISBN 13 :
Total Pages : 290 pages
Book Rating : 4.E/5 ( download)

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Book Synopsis Genetic Research in India by : Ishwar C. Verma

Download or read book Genetic Research in India written by Ishwar C. Verma and published by . This book was released on 1986 with total page 290 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Inherited Disorders of Carbohydrate Metabolism

Author : D. Burman
Publisher : Springer Science & Business Media
ISBN 13 : 9400992157
Total Pages : 426 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Inherited Disorders of Carbohydrate Metabolism by : D. Burman

Download or read book Inherited Disorders of Carbohydrate Metabolism written by D. Burman and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.

Transport and Inherited Disease

Author : C. Toothill
Publisher : Springer Science & Business Media
ISBN 13 : 9400973160
Total Pages : 384 pages
Book Rating : 4.4/5 (9 download)

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Book Synopsis Transport and Inherited Disease by : C. Toothill

Download or read book Transport and Inherited Disease written by C. Toothill and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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).

Atlas of Inherited Metabolic Diseases

Author : William L Nyhan
Publisher : CRC Press
ISBN 13 : 1138196606
Total Pages : 871 pages
Book Rating : 4.1/5 (381 download)

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Book Synopsis Atlas of Inherited Metabolic Diseases by : William L Nyhan

Download or read book Atlas of Inherited Metabolic Diseases written by William L Nyhan and published by CRC Press. This book was released on 2020-07-14 with total page 871 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 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.

The Modern Management of Mental Handicap

Author : G.B. Simon
Publisher : Springer Science & Business Media
ISBN 13 : 9401172005
Total Pages : 309 pages
Book Rating : 4.4/5 (11 download)

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Book Synopsis The Modern Management of Mental Handicap by : G.B. Simon

Download or read book The Modern Management of Mental Handicap written by G.B. Simon 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 aim of this book is to provide parents, staff and others involved with mentally handicapped children and adults with up to-date basic information and advice in their management. Methods of care, treatment and management of a heterogeneous group of people such as the mentally handicapped must of necessity include many disciplines if they are to be given an adequate service. This book is an attempt to bring the knowledge and experience of many people together. The size of the book could have been increased to include more detail on other aspects of the subject but this might easily have diminished its value as a convenient reference to as wide a readership as possible, both professional and non-professional. The contents deal essentially with the needs of the severely mentally handicapped and should have an application in most parts of the world. Much of the information and advice on services, and on treatment and management, is based on the experience of specialists working in the United Kingdom, this now being standard practice in most parts of the world.