Download or read book Inborn errors of Carbohydrate Metabolism written by Ivan Martinez Duncker and published by Frontiers Media SA. This book was released on 2024-07-03 with total page 166 pages. Available in PDF, EPUB and Kindle. Book excerpt: Inborn errors of carbohydrate metabolism are a heterogeneous subgroup of inborn errors that are caused by mutations in human genes coding for proteins involved in carbohydrate catabolic and anabolic pathways. Through the breakdown of sugars, carbohydrate catabolism allows a constant supply of energy (e.g. glycolysis), but also involves the breakdown of the cell’s complex oligosaccharides (e.g. lysosomal degradation of surface glycoconjugates) allowing the recycling of monosaccharides. On the other hand, anabolism of carbohydrates (e.g. gluconeogenesis) is required to supply newly synthesized sugars to catabolic pathways, also allowing interconversion of sugars and sustaining the synthetic pathways of complex carbohydrate structures such as glycosaminoglycans and glycans that are the carbohydrate moiety of glycoconjugates involved in multiple biological functions.
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.
Download or read book Advances in Inborn Errors Carbohydrate 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 Carbohydrate Metabolism Research and Treatment: 2011 Edition is a ScholarlyPaper™ that delivers timely, authoritative, and intensively focused information about Inborn Errors Carbohydrate Metabolism in a compact format. The editors have built Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment: 2011 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Carbohydrate 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 Carbohydrate 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 Liver Disease in Children written by Frederick J. Suchy and published by Cambridge University Press. This book was released on 2021-03-18 with total page 875 pages. Available in PDF, EPUB and Kindle. Book excerpt: Liver disease in children is increasing in prevalence, placing a huge burden on healthcare systems and often requiring long-term management. Offering an integrative approach to the science and clinical practice of pediatric hepatology, this is the definitive reference text for improved diagnosis and treatment strategies. In the new edition of this authoritative text, chapters have been thoroughly revised in line with major advances in the field, such as recognizing the increased frequency of fatty liver disease, and how genetic testing has the potential to establish earlier diagnoses for a variety of diseases. Disorders covered include cholestasis, metabolic disorders and hepatitis, with their presentation across the spectrum of infancy, childhood and adolescence discussed. The indications and surgical aspects of liver transplant are explained and post-transplant care is described in detail. This is a valuable resource for pediatricians, hepatologists, gastroenterologists and all clinicians involved in the care of children with liver diseases.
Download or read book Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment 2012 Edition written by and published by ScholarlyEditions. This book was released on 2012-12-26 with total page 45 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment / 2012 Edition is a ScholarlyBrief™ that delivers timely, authoritative, comprehensive, and specialized information about Inborn Errors Carbohydrate Metabolism in a concise format. The editors have built Advances in Inborn Errors Carbohydrate Metabolism Research and Treatment / 2012 Edition on the vast information databases of ScholarlyNews.™ You can expect the information about Inborn Errors Carbohydrate 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 Carbohydrate 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/.
Download or read book Physician s Guide to the Treatment and Follow Up of Metabolic Diseases written by Nenad Blau and published by Springer Science & Business Media. This book was released on 2006-01-16 with total page 404 pages. Available in PDF, EPUB and Kindle. Book excerpt: This reference provides concise information on the treatment and management of inherited metabolic diseases for the clinician. World experts cover all commonalities of therapy giving practical advice and guidance for daily practice. All established treatment protocols in this quickly developing area of medicine are clearly described, including follow-up protocols and monitoring. Alternative and experimental therapies are also described and evaluated. Numerous tables, figures, and several indices (symptom, disease name, tests, etc.) allow rapid access to specific details. This book is invaluable to anyone dealing with patients with inherited metabolic diseases, pediatricians, internists, neurologists, and clinical geneticists.
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
Download or read book Oxford Textbook of Endocrinology and Diabetes written by John A.H. Wass and published by Oxford University Press, USA. This book was released on 2011-07-28 with total page 2158 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its second edition, the Oxford Textbook of Endocrinology and Diabetes is a fully comprehensive, evidence-based, and highly-valued reference work combining basic science with clinical guidance, and providing first rate advice on diagnosis and treatment.
Download or read book Disorders of Carbohydrate Metabolism in Infancy written by Marvin Cornblath and published by W.B. Saunders Company. This book was released on 1976 with total page 528 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 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 Inborn Errors of Metabolism written by David Yi-Yung Hsia and published by . This book was released on 2013-04 with total page 358 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Disorders of Carbohydrate Metabolism written by David Burman and published by . This book was released on 1980 with total page 433 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Principles of Perinatal Neonatal Metabolism written by Richard M. Cowett and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 792 pages. Available in PDF, EPUB and Kindle. Book excerpt: Over the last quarter century or so, specialization within obstetrics and gynecology, and pediatrics has resulted in the development of the disciplines of maternal-fetal medicine and neonatology, respectively. A primary focus of maternal-fetal medicine has been to understand the mechanism(s) of premature delivery and develop treatment modalities for improving the length of gestation. A primary focus of neonatology has been to under stand the causes of respiratory distress in the neonate. Success has resulted, not only in the lengthening of gestation, but an improved understanding of the causes and treatment of neonatal respiratory disease. With increasing success has come the necessity to under stand the metabolic principles of the parturient, the fetal/placenta unit, and the neonate. These principles are clearly very important from multiple aspects. Increased understand ing of metabolism of the pregnant woman would explain the aberrations occurring in normal and abnormal pregnancy and improve nutritional support for the parturient. A prime example of altered metabolism is the parturient with diabetes. Understanding metabolism ofthe fetal/placenta unit is necessary to increase the probability that the fetus will be born appropriate for size irrespective of the gestational age. The various compo nents of neonatal metabolism are important, not only for understanding the changes in physiology and biochemistry occurring in the developing neonate, but the principles by which nutritional support should be provided.
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.
Download or read book Metabolism at a Glance written by J. G. Salway and published by John Wiley & Sons. This book was released on 2017-02-06 with total page 147 pages. Available in PDF, EPUB and Kindle. Book excerpt: Metabolism at a Glance presents a concise, illustrated summary of metabolism in health and disease. This essential text is progressively appropriate for introductory through to advanced medical and biochemistry courses. It also provides a succinct review of inborn errors of metabolism, and reference for postgraduate medical practitioners and biomedical scientists who need a resource to quickly refresh their knowledge. Fully updated and extensively illustrated, this new edition of Metabolism at a Glance is now in full colour throughout, and includes new coverage of sports biochemistry; the metabolism of lipids, carbohydrates and cholesterol; glyceroneogenesis, α-oxidation and ω-oxidation of fatty acids. It also features the overlooked “Krebs Uric Acid Cycle”. Metabolism at a Glance offers an accessible introduction to metabolism, and is ideal as a revision aid for students preparing for undergraduate and USMLE Step 1 exams.
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:
