Download or read book Urea Cycle Diseases written by A. Lowenthal and published by Springer Science & Business Media. This book was released on 2013-03-09 with total page 504 pages. Available in PDF, EPUB and Kindle. Book excerpt: Introduction New Facets in Urea Cycle Disorders INTRODUCTION A. Lowenthal Laboratory of Neurochemistry, Born-Bunge Foundation, Universitaire Instelling Antwerpen, Wilrijk, Belgium This occasion is by no means the first meeting devoted to urea cycle diseases. It has been preceeded by meetings held in the Netherlands and in Spain. Accordingly the justification for a further meeting is not immediately evident. The reason for it is that the problems related to urea cycle diseases are developing fast, as instanced inter alia by I) the relation observed between hyperornithinemia and gyrate atrophy and the therapeutic acquisitions which result from it 2) the treatment of hyperammonemias. If the diagnosis of urea cycle disease is easily established by following standard principles and techniques, i.e. by means of amino acid analysis, with or without prior loading tests, by ammonemia measurement and by enzyme determination, also if these operations produce clear and precise conclusions in the matter of genetics and preventive medicine, yet many physiopathological questions remain unanswered and a number of therapeutic problems of these remain unsolved.
Download or read book Urea Cycle Diseases written by A Lowenthal and published by Springer. This book was released on 2014-01-15 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt:
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 363 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.
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 Diagnosis and Treatment in Internal Medicine written by Patrick Davey and published by Oxford University Press. This book was released on 2018-08-30 with total page 1297 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis and Treatment in Internal Medicine equips trainee doctors with the essential skills and core knowledge to establish a diagnosis reliably and quickly, before outlining the management of the clinical condition diagnosed. Organised into three sections, the first provides a vital overview, whilst the second focuses on common presentations and diagnoses. Uniquely, this new book shows readers how to turn symptoms into a list of diagnoses ordered by probability - a differential diagnosis. Experienced consultants who teach trainees every day demonstrate how to derive an ordered differential diagnosis, how to narrow this down to a single diagnosis and if not, how to live with diagnostic uncertainty. The final section provides a comprehensive account of the management of system-based syndromes and diseases. Highly-structured chapters emphasize how common conditions present, how to approach a diagnosis, and how to estimate prognosis, treatment and its effectiveness. An onus is placed on the development of crucial diagnostic skills and the ability to devise evidence-based management plans quickly and accurately, making this an ideal text for core medical trainees.
Download or read book Urea Cycle Diseases written by and published by . This book was released on 1982 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book The Urea Cycle written by Santiago Grisolía and published by John Wiley & Sons. This book was released on 1976 with total page 618 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Metabolic Diseases written by E. Gilbert-Barness and published by IOS Press. This book was released on 2017-01-06 with total page 960 pages. Available in PDF, EPUB and Kindle. Book excerpt: The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.
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 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 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 Brain Disorders in Critical Illness written by Robert D. Stevens and published by Cambridge University Press. This book was released on 2013-09-19 with total page 457 pages. Available in PDF, EPUB and Kindle. Book excerpt: Brain dysfunction is a major clinical problem in intensive care, with potentially debilitating long-term consequences for post-ICU patients of any age. The resulting extended length of stay in the ICU and post-discharge cognitive dysfunction are now recognized as major healthcare burdens. This comprehensive clinical text provides intensivists and neurologists with a practical review of the pathophysiology of brain dysfunction and a thorough account of the diagnostic and therapeutic options available. Initial sections review the epidemiology, outcomes, relevant behavioral neurology and biological mechanisms of brain dysfunction. Subsequent sections evaluate the available diagnostic options and preventative and therapeutic interventions, with a final section on clinical encephalopathy syndromes encountered in the ICU. Each chapter is rich in illustrations, with an executive summary and a helpful glossary of terms. Brain Disorders in Critical Illness is a seminal reference for all physicians and neuroscientists interested in the care and outcome of severely ill patients.
Download or read book Hepatocyte Transplantation written by S. Gupta and published by Springer Science & Business Media. This book was released on 2002-09-30 with total page 386 pages. Available in PDF, EPUB and Kindle. Book excerpt: In recent years there has been an increasing need for transplantation, but the number of donor livers available has increased only slightly, despite intensive public relations activities. New concepts in the field of transplantation, for instance the transplantation of living donor organs or the splitting of organs, are urgently required, to safeguard the treatment of patients with severe liver disease. The development and clinical application of cell therapy for patients with liver disease could soon present a significant enhancement of the therapeutic options. The aim of such cell therapy is to repair or improve the biological function of the chronically and acutely damaged liver. Even though systematic trials are not available, individual case reports and small series already show promising clinical results. Present concepts of cell therapy for liver diseases based on the use of primary hepatocytes have recently been considerably extended through new data on the biology of stem cells. The adult haematopoetic stem cell as a pool for hepatocyte grafts - what would be the perspectives for the clinical application? This book is the proceedings of the Falk Symposium No. 126 on `Hepatocyte Transplantation' (Progress in Gastroenterology and Hepatology Part III) held in Hannover, Germany, October 2-3, 2001, and is a forum for basic research, but also for questions concerning clinical applications in the field of hepatocyte transplantation.
Download or read book Sweet Biochemistry written by Asha Kumari and published by Elsevier. This book was released on 2023-07-20 with total page 243 pages. Available in PDF, EPUB and Kindle. Book excerpt: Sweet Biochemistry: Remembering Structures, Cycles, and Pathways by Mnemonics, Second Edition makes biochemistry lively, interesting and memorable by connecting objects, images and stories to biochemistry concepts. Here, Dr. Asha Kumari has converted cycles and difficult pathways into very simple formula and short stories and images to help readers see things in complicated cycles and better visualize biochemistry. As biochemistry is evolving steadily, with new and impactful topics, this new edition has been fully updated to include mnemonics on timely topics in biochemistry such as DNA replication, RNA, transcription, translation, and CRISPR technology, as well as fundamentals of immunity. Provides quick, indigenous formula, mnemonics, figures, poems and short stories to absorb key concepts in biochemistry Presents original diagrams that are easy to recall Features simplified tables for remembering distinguishing features Updated to address evolving topics in basic and medical biochemistry, including DNA replication, RNA transcription and translation and immunity fundamentals
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.
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:
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.
