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Advances In Inborn Errors Steroid Metabolism Research And Treatment 2012 Edition
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Book Synopsis Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2012 Edition by :
Download or read book Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 22 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Steroid Metabolism Research and Treatment / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Steroid Metabolism in a compact format. The editors have built Advances in Inborn Errors Steroid Metabolism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Steroid 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 Steroid 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/.
Book Synopsis Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2011 Edition by :
Download or read book Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 25 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Steroid Metabolism in a compact format. The editors have built Advances in Inborn Errors Steroid Metabolism Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Steroid 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 Steroid Metabolism Research and Treatment: 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/.
Book Synopsis Advances in Inborn Errors Renal Tubular Transport Research and Treatment: 2012 Edition by :
Download or read book Advances in Inborn Errors Renal Tubular Transport Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 24 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Renal Tubular Transport Research and Treatment / 2012 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Renal Tubular Transport in a compact format. The editors have built Advances in Inborn Errors Renal Tubular Transport Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Renal Tubular Transport 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 Renal Tubular Transport 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/.
Book Synopsis Nutritional and Metabolic Diseases—Advances in Research and Treatment: 2012 Edition by :
Download or read book Nutritional and Metabolic Diseases—Advances in Research and Treatment: 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 175 pages. Available in PDF, EPUB and Kindle. Book excerpt: Nutritional and Metabolic Diseases—Advances in Research and Treatment: 2012 Edition is a ScholarlyEditions™ eBook that delivers timely, authoritative, and comprehensive information about Nutritional and Metabolic Diseases. The editors have built Nutritional and Metabolic Diseases—Advances in Research and Treatment: 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Nutritional and Metabolic Diseases 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 Nutritional and Metabolic Diseases—Advances in 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/.
Book Synopsis Disease Control Priorities, Third Edition (Volume 6) by : King K. Holmes
Download or read book Disease Control Priorities, Third Edition (Volume 6) written by King K. Holmes and published by World Bank Publications. This book was released on 2017-11-06 with total page 1027 pages. Available in PDF, EPUB and Kindle. Book excerpt: Infectious diseases are the leading cause of death globally, particularly among children and young adults. The spread of new pathogens and the threat of antimicrobial resistance pose particular challenges in combating these diseases. Major Infectious Diseases identifies feasible, cost-effective packages of interventions and strategies across delivery platforms to prevent and treat HIV/AIDS, other sexually transmitted infections, tuberculosis, malaria, adult febrile illness, viral hepatitis, and neglected tropical diseases. The volume emphasizes the need to effectively address emerging antimicrobial resistance, strengthen health systems, and increase access to care. The attainable goals are to reduce incidence, develop innovative approaches, and optimize existing tools in resource-constrained settings.
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:
Book Synopsis Inborn Errors of Immunity and Phagocytosis by : F. Güttler
Download or read book Inborn Errors of Immunity and Phagocytosis written by F. Güttler and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 394 pages. Available in PDF, EPUB and Kindle. Book excerpt: The rapid growth of immunology has greatly increased our understanding of disease; this growth has also generated a subject which at times appears separated from some of the basic medical sciences. Recent studies in the areas of purine metabolism and of polymorphonuclear neutrophil phago cyte function have, however, linked immunology and clinical medicine with biochemistry. The precise defects of the inborn errors of metabolism have now provided good evidence for the importance of purine metabolism specifically the enzymes adenosine deaminase and nucleoside phosphorylase in lymphocyte function. In view of this and the steady advance of clinical and biochemical investigation of the polymorphonuclear neutrophil phago cyte, it appeared timely to review the inborn errors of immunity and phagocytosis at the fifteenth annual symposium of the Society for the Study of Inborn Errors of Metabolism at Elsinore, Denmark on September II-14th, I~77. The papers presented at that meeting form the basis of this volume which brings together contributions from immunologists, biochemists and clinicians. This interdisciplinary communication should be helpful to those concerned with immune function in their patients or in the laboratory. The book is divided into four sections, One: defects of cell-mediated immunity, Two: enzyme defects and immunodeficiency, Three: disorders of non-specific immunity and Four: screening for immunodeficiency. Section One contains two reviews, one on immunodeficiency from Robert Good's group in New York and another on the genetics of the immune system from Arne Svejgaard of Copenhagen.
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 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 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 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 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 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 Newborn Screening for Inborn Errors of Metabolism by : Mohamed A. Elmonem
Download or read book Newborn Screening for Inborn Errors of Metabolism written by Mohamed A. Elmonem and published by Frontiers Media SA. This book was released on 2021-10-29 with total page 131 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Advances in Pediatrics by : Anupam Sachdeva
Download or read book Advances in Pediatrics written by Anupam Sachdeva and published by JP Medical Ltd. This book was released on 2012-08-31 with total page 1922 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Biomarkers in Inborn Errors of Metabolism by : Uttam Garg
Download or read book Biomarkers in Inborn Errors of Metabolism written by Uttam Garg and published by Elsevier. This book was released on 2017-06-07 with total page 477 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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
Book Synopsis Pediatric Endocrinology and Inborn Errors of Metabolism by : Kyriakie Sarafoglou
Download or read book Pediatric Endocrinology and Inborn Errors of Metabolism written by Kyriakie Sarafoglou and published by McGraw Hill Professional. This book was released on 2012-09-01 with total page 966 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fast, crystal-clear guidance on managing both pediatric endocrine disorders and inborn errors of metabolism A Doody's Core Title for 2011! New England Journal of Medicine Review! "...an inspiring learning tool....Sarafoglou and colleagues have combined their expertise to create an informative and timely textbook in which the explanations of underlying mechanisms guide the structure of each chapter. It is a unique book that is pleasing to the eye, nurturing for the mind, and instructive for a broad readership."--New England Journal of Medicine 4 STAR DOODY'S REVIEW! "The book covers various pathophysiologic aspects of each endocrine organ and its interaction with other endocrine and nonendocrine systems. Disorders of thyroid and adrenal glands, pituitary, reproductive organs, and endocrine neoplasia are extensively covered. Most large groups of metabolic diseases are reviewed as well. Concise, pertinent information is provided on mitochondrial and fatty-acid oxidation, urea cycle and glycogen storage disorders, as well as organic acidurias and amino acidopathies. The most useful and user-friendly areas are the 1-to-2-page "at-a-glance" sections in each chapter which provide concise yet pertinent information about the disorders within a particular group of endocrine disturbances or IEM. This is a well written book and the multiple visual aids greatly assist in comprehension and memorization of the material...I strongly recommend this book without reservation." -- Doody's In one practical, user-friendly tutorial, a team of international contributors delivers the latest information and clinical insights you need to confidently diagnose and manage pediatric patients. This full-color resource guides you through the etiology, pathophysiology, presenting signs and symptoms, diagnostic laboratory examinations, and treatments regimens of each disorder. Features: Full-color presentation with numerous photos, illustrations, diagnostic algorithms, tables, and text boxes that summarize key concepts and assist in the decision-making process At-a-Glance feature beginning each disease-based chapter summarizes all the clinical information you need to differentiate between disorder sub-types in one easy-to-find place All-inclusive coverage encompasses the full spectrum of critical topics Emergency assessment and treatment chapter gives you fast, clear guidance on acute presentations of endocrine and metabolic disorders Chapter on newborn screening walks you through an abnormal screening result to follow-up diagnostic testing Complete and detailed information on all laboratory and radiographic testing used to diagnose disorders in both disciplines
