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Inherited Disorders Of Sulphur Metabolism
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Book Synopsis Inherited disorders of sulphur metabolism by : Society for the Study of Inborn Errors of Metabolism
Download or read book Inherited disorders of sulphur metabolism written by Society for the Study of Inborn Errors of Metabolism and published by . This book was released on 1971 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Author :Society for the Study of Inborn Errors of Metabolism Staff Publisher : ISBN 13 :9780598254603 Total Pages :322 pages Book Rating :4.2/5 (546 download)
Book Synopsis Inherited Disorders of Sulphur Metabolism by : Society for the Study of Inborn Errors of Metabolism Staff
Download or read book Inherited Disorders of Sulphur Metabolism written by Society for the Study of Inborn Errors of Metabolism Staff and published by . This book was released on 1971 with total page 322 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Inherited Disorders of Sulphur Metabolism by : N. A. J. Carson
Download or read book Inherited Disorders of Sulphur Metabolism written by N. A. J. Carson and published by . This book was released on 1970 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Glutathione and Sulfur Amino Acids in Human Health and Disease by : Roberta Masella
Download or read book Glutathione and Sulfur Amino Acids in Human Health and Disease written by Roberta Masella and published by John Wiley & Sons. This book was released on 2009-08-06 with total page 626 pages. Available in PDF, EPUB and Kindle. Book excerpt: The complex roles of glutathione and sulfur amino acids in human health Glutathione (γ-L-glutamyl-L-cysteinylglycine, GSH) is a major antioxidant acting as a free radical scavenger that protects the cell from reactive oxygen species (ROS). Sulfur amino acids (SAAs), such as methionine and cysteine, play a critical role in the maintenance of health. GSH depletion as well as alterations of SAA metabolism are linked to a host of disease states including liver cirrhosis, various pulmonary diseases, myocardial ischemia and reperfusion injury, aging, Parkinson's disease, Alzheimer's disease, sepsis, and others. This book provides researchers with a comprehensive review of the biochemistry, absorption, metabolism, biological activities, disease prevention, and health promotion of glutathione and sulfur amino acids. The twenty-two chapters explore such topics as: Chemistry, absorption, transport, and metabolism of GSH and sulfur amino acids Antioxidant and detoxification properties of GSH and sulfur amino acids, highlighting the enzymatic systems involved in antioxidant defenses Biological activities of GSH and sulfur amino acids and their role in modulating cell processes Role of GSH and sulfur amino acid deficiency and alteration in the onset of diseases and in aging Protective effects exerted by GSH and sulfur amino acids when used as drugs, functional foods, and nutraceuticals in humans and animals Special attention is paid to the molecular mechanisms for the modulation of transcription factors and enzyme activities, as well as the nutritional and therapeutic significance of dietary sulfur amino acids as shown in human and animal models. With more than 2,000 scientific references, this book provides food scientists, nutritionists, biochemists, food technologists, chemists, molecular biologists, and public health professionals with a comprehensive and up-to-date examination of glutathione and sulfur amino acids in human health and disease.
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 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 Biochemistry of Sulfur by : Ryan J. Huxtable
Download or read book Biochemistry of Sulfur written by Ryan J. Huxtable and published by Springer Science & Business Media. This book was released on 2013-11-11 with total page 454 pages. Available in PDF, EPUB and Kindle. Book excerpt: There can be few elements with a biochemistry as coherent as that of sulfur. This important element is crucial to myriad aspects of metabo lism, catalysis, and structure. The plurality of functions in which sulfur is involved derives squarely from the numerous oxidation states in which it may exist, some having great stability, some being capable of ready redox interconversions, and yet others having great instability. As a result, the flux of sulfur from the geosphere through the various kingdoms of life leaves few biochemical processes unaffected. Although there are large gaps in the fabric of our basic knowledge of sulfur biochemistry, it is sufficiently framed to allow a unified and organized story, a story which many of the best-known names in bio chemistry have helped to write. It has been both a task and a privilege to try and summarize this story, one that is enormous, complex, fast moving, still developing and, above all, exciting. I suppose that no mo nographer of such a vast subject could be satisfied with his efforts. It is unfortunately probable that in attempting this task I have made as many errors as a Stilton cheese has blue streaks, and as many omissions as a Swiss cheese has holes. Perfection is not to be achieved in a monograph. Inasmuch as I have succeeded, the credit belongs to those whose efforts gave us the knowledge we have. Where I have failed, the fault is only mine.
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.
Book Synopsis Metabolism of Sulfur Compounds by : David Greenberg
Download or read book Metabolism of Sulfur Compounds written by David Greenberg and published by Elsevier. This book was released on 2012-12-02 with total page 637 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolic Pathways, Third Edition: Volume VII: Metabolism of Sulfur Compounds deals with various aspects of the metabolism and biosynthesis of sulfur compounds such as coenzyme A, biotin, thiamine, and lipoic acid. The biochemistry of glutathione and the sulfur cycle is also discussed, together with sulfate activation and transfer; oxidative metabolism of cysteine and cystine in animal tissues; and enzyme defects in sulfur amino acid metabolism in humans. This volume is comprised of 15 chapters and begins with a discussion on the pathways of biosynthesis and dissimilation of coenzyme A, as well as the metabolic fate of exogenous coenzyme A in animals. The reader is then introduced to the chemistry, biosynthesis, metabolism, biological role, and biodegradation of biotin; the biosynthesis and function of thiamine; and the biosynthesis, dissimilation, and metabolic role of lipoic acid. Other sulfur compounds considered in this text are glutathione, cysteine and cystine, riboflavin, thiosulfate sulfurtransferase, mercaptopyruvate sulfurtransferase, and methionine. The final chapter is devoted to human diseases associated with enzyme defects in sulfur amino acid metabolism. This book will be a useful resource for biologists and biochemists.
Book Synopsis Genetic Disorders and the Fetus by : Aubrey Milunsky
Download or read book Genetic Disorders and the Fetus written by Aubrey Milunsky and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 718 pages. Available in PDF, EPUB and Kindle. Book excerpt: Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
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.
Book Synopsis Textbook of Pediatric Gastroenterology, Hepatology and Nutrition by : Stefano Guandalini
Download or read book Textbook of Pediatric Gastroenterology, Hepatology and Nutrition written by Stefano Guandalini and published by Springer. This book was released on 2015-09-30 with total page 889 pages. Available in PDF, EPUB and Kindle. Book excerpt: This textbook provides a comprehensive and state-of-the-art overview of the major issues specific to the field of pediatric gastroenterology, hepatology, and nutrition. The first part of the book, Gastroenterology and Nutrition, presents in a systematic way the overall scope of issues encountered by children (newborn to teenagers) suffering from disorders of the gastrointestinal tract, pancreas and/or presenting nutritional issues. These chapters are structured in logical sections to facilitate consultation and include major topics ranging from congenital disorders to gastrointestinal problems of the newborn, infectious diseases of the gastrointestinal tract, and approach to nutritional problems in the various pediatric ages. The second part of the book, Hepatology, is articulated in a series of chapters which present a comprehensive review of congenital and acquired disorders of the biliary tract and liver. This section also includes a critical analysis of available diagnostic and therapeutic procedures and future perspectives. Written by experts in the field, Textbook of Pediatric Gastroenterology, Hepatology and Nutrition: A Comprehensive Guide to Practice constitutes a much needed, innovative resource combining updated, reliable and comprehensive information with agile consultation for a streamlined approach to the care of children with such disorders.
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).
Book Synopsis Nutrition Management of Patients with Inherited Metabolic Disorders by : Phyllis B. Acosta
Download or read book Nutrition Management of Patients with Inherited Metabolic Disorders written by Phyllis B. Acosta and published by Jones & Bartlett Learning. This book was released on 2009-08-03 with total page 490 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.
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.
Book Synopsis The Metabolic Basis of Inherited Disease by : John Bruton Stanbury
Download or read book The Metabolic Basis of Inherited Disease written by John Bruton Stanbury and published by McGraw-Hill Companies. This book was released on 1983 with total page 2052 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Atlas of Inherited Metabolic Diseases 3E by : William Nyhan
Download or read book Atlas of Inherited Metabolic Diseases 3E written by William Nyhan and published by CRC Press. This book was released on 2011-12-30 with total page 889 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 third edition of this highly regarded book, autho
