Download or read book Abnormalities in Amino Acid Metabolism in Clinical Medicine written by William L. Nyhan and published by McGraw-Hill/Appleton & Lange. This book was released on 1984 with total page 488 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Disturbances of Amino Acid Metabolism written by Hans J. Bremer and published by Urban & Schwarzenberg. This book was released on 1981 with total page 552 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Heritable Disorders of Amino Acid Metabolism written by William L. Nyhan and published by . This book was released on 1974 with total page 783 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Amino Acid Metabolism and Its Disorders written by Charles R. Scriver and published by W.B. Saunders Company. This book was released on 1973 with total page 516 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Physician s Guide to the Laboratory Diagnosis of Metabolic Diseases written by N. Blau and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 732 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of The Physician's Guide provides paediatricians and other physicians with a unique aid to help them select the correct diagnosis from a bewildering array of complex clinical and laboratory data. Delay and mistakes in the diagnosis of inherited metabolic diseases may have devastating consequences. The guide, which includes a CD-ROM, describes 298 disorders which have been grouped into 35 chapters according to the type of condition. Within each group of disorders, chapters provide tables of pertinent clinical findings as well as reference and pathological values for crucial metabolites. Relevant metabolic pathways and diagnostic flow charts are included. There are three indices to make the book as user-friendly as possible.
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.
Download or read book Inborn Metabolic Diseases written by K. Tada and published by Springer Science & Business Media. This book was released on 2013-03-14 with total page 421 pages. Available in PDF, EPUB and Kindle. Book excerpt: Each disease-related chapter begins with a detailed description of the patient and the delineating symptoms used for establishing the diagnosis and differential diagnosis. The highly detailed figures illustrate the metabolic derangement in a uniform way, together with essential aspects of the genetics involved, thus affording clarification and better understanding of the treatment. Topics covered range from general aspects such as the clinical approach, emergency treatment, diagnostic procedures, and psychosocial care for the child and the family, to specific discussions of new modes of treatment, including liver, bone marrow transplantation and somatic gene therapy.
Download or read book Inborn Metabolic Diseases written by Jean-Marie Saudubray and published by Springer. This book was released on 2016-11-10 with total page 655 pages. Available in PDF, EPUB and Kindle. Book excerpt: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
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.
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
Download or read book Advances in Inborn Errors Amino Acid Metabolism Research and Treatment 2011 Edition written by and published by ScholarlyEditions. This book was released on 2012-01-09 with total page 26 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Amino Acid Metabolism in a compact format. The editors have built Advances in Inborn Errors Amino Acid Metabolism Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Amino Acid 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 Amino Acid 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/.
Download or read book A Clinical Guide to Inherited Metabolic Diseases written by Joe T. R. Clarke and published by Cambridge University Press. This book was released on 2005-12-08 with total page 360 pages. Available in PDF, EPUB and Kindle. Book excerpt: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. The reader is led through the diagnostic process from the identification of those features of an illness suggesting that it might be metabolic through the selection of appropriate laboratory investigation to a final diagnosis. The book is organized into chapters according to the most prominent presenting problem of patients with inherited metabolic diseases: neurologic, hepatic, cardiac, metabolic acidosis, dysmorphism, and acute catastrophic illness in the newborn. It also includes chapters on general principles, laboratory investigation, neonatal screening, and the principles of treatment. This new edition includes much greater depth on mitochondrial disease and congenital disorders of glycosylation. The chapters on neurological syndrome and newborn screening are greatly expanded, as are those on laboratory investigation and treatment, to take account of the very latest technological developments.
Download or read book The Metabolic Molecular Bases of Inherited Disease written by Charles R. Scriver and published by New York ; Montreal : McGraw-Hill. This book was released on 2001 with total page 6338 pages. Available in PDF, EPUB and Kindle. Book excerpt: Presents clinical, biochemical, and genetic information concerning those metabolic anomalies grouped under inborn errors of metabolism.
Download or read book Atlas of Metabolic Diseases Second edition written by William L 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, authored by three of the foremost authorities in pediatric metabolic medicine, fulfils this need by providing an invaluable insight into the problems associated with metabolic diseases. For ease of reference, Atlas of Metabolic Disease is divided into sections of related disorders, such as disorders of amino acid metabolism, lipid storage disorders and mitochondrial diseases, with an introductory outline where appropriate summarizing the biochemical features and general management issues. Within sections each chapter deals with an individual disease, starting with a useful summary of major phenotypic expression and including clear and helpful biochemical pathways, identifying for the reader exactly where the defect is occurring. Throughout the book, plentiful photographs, often showing extremely rare disorders, are an invaluable aid to diagnosis.
Download or read book PET Studies on Amino Acid Metabolism and Protein Synthesis written by B.M. Mazoyer and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 270 pages. Available in PDF, EPUB and Kindle. Book excerpt: Parameters such as membrane transport, metabolism and protein incorporation govern the fate of amino acids in living tissue. Is it possible to use positron tomography to measure some of them, and what is their meaning in normal and pathological situations? These questions have been addressed for a long time and no satisfactory answer has yet been given. This book, which derives from an EEC workshop organized in the frame of the Concerted Action on `PET Investigation of Cellular Regeneration and Degeneration', held in Lyon in February 1992, gives the present state of knowledge in this field based on the most recent studies. Contributions from 24 leading European and American scientists are presented and discussed in the following four parts: biochemistry and animal studies; amino acids labelling with positron emittors, quality control and metabolites measurement; kinetic modelling of amino acids transport, metabolism, and protein incorporation; clinical use of amino acids. This book will aid and interest biochemists, radiochemists, pharmacologists, neurologists, oncologists and medical imaging scientists.
Download or read book Medical Biochemistry written by Antonio Blanco and published by Academic Press. This book was released on 2022-03-23 with total page 910 pages. Available in PDF, EPUB and Kindle. Book excerpt: This second edition of Medical Biochemistry is supported by more than 45 years of teaching experience, providing coverage of basic biochemical topics, including the structural, physical, and chemical properties of water, carbohydrates, lipids, proteins, and nucleic acids. In addition, the general aspects of thermodynamics, enzymes, bioenergetics, and metabolism are presented in straightforward and easy-to-comprehend language. This book ties these concepts into more complex aspects of biochemistry using a systems approach, dedicating chapters to the integral study of biological phenomena, including cell membrane structure and function, gene expression and regulation, protein synthesis and post-translational modifications, metabolism in specific organs and tissues, autophagy, cell receptors, signal transduction pathways, biochemical bases of endocrinology, immunity, vitamins and minerals, and hemostasis. The field of biochemistry is continuing to grow at a fast pace. This edition has been revised and expanded with all-new sections on the cell plasma membrane, the human microbiome, autophagy, noncoding, small and long RNAs, epigenetics, genetic diseases, virology and vaccines, cell signaling, and different modes of programmed cell death. The book has also been updated with full-color figures, new tables, chapter summaries, and further medical examples to improve learning and better illustrate the concepts described and their clinical significance. - Integrates basic biochemistry principles with molecular biology and molecular physiology - Illustrates basic biochemical concepts through medical and physiological examples - Utilizes a systems approach to understanding biological phenomena - Fully updated for recent studies and expanded to include clinically relevant examples and succinct chapter summaries
Download or read book Metabolic Therapeutic Aspects of Amino Acids in Clinical Nutrition written by Luc A. Cynober and published by CRC Press. This book was released on 2003-11-13 with total page 1229 pages. Available in PDF, EPUB and Kindle. Book excerpt: The first edition of this innovative book brought a new perspective to the metabolic and therapeutic aspects of amino acids in clinical nutrition. Since its publication, a number of very important advances have been made in the field and interesting new findings have emerged. Until now, no reference has fully explored the promising new developments
