Download or read book Inherited Disorders of Vitamins and Cofactors written by G.M. Addison and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 162 pages. Available in PDF, EPUB and Kindle. Book excerpt: Proceedings of the 22nd Annual Symposium of the SSIEM, Newcastle Upon Tyne, September 1984

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.

Download or read book Clinical Mitochondrial Medicine written by Patrick F. Chinnery and published by Cambridge University Press. This book was released on 2018-05-17 with total page 229 pages. Available in PDF, EPUB and Kindle. Book excerpt: This interactive clinical textbook takes a system- and case-based approach in understanding mitochondrial disorders in clinical practice.

Download or read book Inborn Errors of Metabolism written by Brendan Lee and published by Oxford Monographs on Medical G. This book was released on 2014-10-13 with total page 393 pages. Available in PDF, EPUB and Kindle. Book excerpt: This volume is an expansion on the known treatment model of IEMs, one that establishes an innovative pathway approach and provides a new authority on this family of disease. Alongside the standard cadre of molecular and clinical underpinnings, this book includes coverage of newborn screening and an overarching treatment of IEMs as complex diseases.

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 Industrial Biotechnology of Vitamins Biopigments and Antioxidants written by Erick J. Vandamme and published by John Wiley & Sons. This book was released on 2016-04-25 with total page 580 pages. Available in PDF, EPUB and Kindle. Book excerpt: Vitamins are a group of physiologically very important, chemically quite complex organic compounds, that are essential for humans and animals. Some vitamins and other growth factors behave as antioxidants, while some can be considered as biopigments. As their chemical synthesis is laborious, their biotechnology-based synthesis and production via microbial fermentation has gained substantial interest within the last decades. Recent progress in microbial genetics and in metabolic engineering and implementation of innovative bioprocess technology has led to a biotechnology-based industrial production of many vitamins and related compounds. Divided into three sections, this volume covers: 1. water-soluble vitamins 2. fat-soluble vitamin compounds and 3. other growth factors, biopigments, and antioxidants. They are all reviewed systematically: from natural occurrence and assays, via biosynthesis, strain development, to industrially-employed biotechnological syntheses and applications.

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 476 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 Physiology Or Medicine 1922 1941 written by Jan Lindsten and published by World Scientific. This book was released on 1999 with total page 564 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Download or read book Present Knowledge in Nutrition written by John W. Erdman, Jr. and published by John Wiley & Sons. This book was released on 2012-05-30 with total page 2062 pages. Available in PDF, EPUB and Kindle. Book excerpt: Present Knowledge in Nutrition, 10th Edition provides comprehensive coverage of all aspects of human nutrition, including micronutrients, systems biology, immunity, public health, international nutrition, and diet and disease prevention. This definitive reference captures the current state of this vital and dynamic science from an international perspective, featuring nearly 140 expert authors from 14 countries around the world. Now condensed to a single volume, this 10th edition contains new chapters on topics such as epigenetics, metabolomics, and sports nutrition.The remaining chapters have been thoroughly updated to reflect recent developments. Suggested reading lists are now provided for readers wishing to delve further into specific subject areas. An accompanying website provides book owners with access to an image bank of tables and figures as well as any updates the authors may post to their chapters between editions. Now available in both print and electronic formats, the 10th edition will serve as a valuable reference for researchers, health professionals, and policy experts as well as educators and advanced nutrition students.

Download or read book Evidence Based Approach to Vitamins and Minerals written by Jane Higdon and published by Thieme. This book was released on 2011-09-07 with total page 547 pages. Available in PDF, EPUB and Kindle. Book excerpt: The latest and most accurate, peer-reviewed information on the role of vitamins and minerals in health and disease An Evidence-Based Approach to Vitamins and Minerals: Health Benefits and Intake Recommendations is a trusted resource for the health professional who needs to interpret the explosion of studies on the role of micronutrients in health and disease and who is concerned about the proliferation of dietary supplements now available to the consumer. This evidence-based reference, now in a second edition, presents the most current scientific, epidemiological and clinical research on the role of vitamins and minerals in preventing disease and promoting optimal health. Organized by micronutrient, the book covers biological function, deficiency, recommended daily allowance, role in disease prevention and treatment, sources, safety, and interactions with other micronutrients and drugs--all endorsed by the internationally acclaimed Linus Pauling Institute at Oregon State University. Special Features: Each chapter reviewed by a recognized expert in the field, who also served on the book's Editorial Advisory Board Contains the latest intake recommendations from the Linus Pauling Institute, as well as the Food and Nutrition Board of the Institute for Medicine Provides a complete index by disease or disorder that facilitates easy location of condition-specific information found in multiple chapters Extensively referenced, with hundreds of citations from the most current experimental, clinical and epidemiological studies Includes useful appendices covering drug-nutrient interactions and nutrient-nutrient interactions, a glossary of terms, a units conversion table, and the Linus Pauling Institute "Prescription for Health," summarizing its recommendations for a healthy diet, lifestyle, and supplement use Taking the approach that micronutrients play a significant role not only in preventing deficiency disease, but in enhancing general health and averting chronic disease, this book is essential for physicians, nutritionists, and allied health professionals who need the most reliable, up-to-date information in this rapidly expanding field.

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 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 Introduction to Epigenetics written by Renato Paro and published by Springer Nature. This book was released on 2021-03-23 with total page 215 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access textbook leads the reader from basic concepts of chromatin structure and function and RNA mechanisms to the understanding of epigenetics, imprinting, regeneration and reprogramming. The textbook treats epigenetic phenomena in animals, as well as plants. Written by four internationally known experts and senior lecturers in this field, it provides a valuable tool for Master- and PhD- students who need to comprehend the principles of epigenetics, or wish to gain a deeper knowledge in this field. After reading this book, the student will: Have an understanding of the basic toolbox of epigenetic regulation Know how genetic and epigenetic information layers are interconnected Be able to explain complex epigenetic phenomena by understanding the structures and principles of the underlying molecular mechanisms Understand how misregulated epigenetic mechanisms can lead to disease

Download or read book The Obstetric Hematology Manual written by Sue Pavord and published by Cambridge University Press. This book was released on 2018-02-08 with total page 362 pages. Available in PDF, EPUB and Kindle. Book excerpt: Understand the rapidly growing complexities of obstetric hematology and high-risk pregnancy management, with experts in the field. Now in its second edition, this comprehensive and essential guide focuses on providing the best support for patients and clinical staff, to prevent serious complications in pregnancy and the post-partum period for both mother and baby. Wide-ranging and detailed, the guide offers discussions on basic principles of best care, through to tackling lesser-known hematological conditions, such as cytopenias and hemoglobinopathies. Updated with color illustrations, cutting-edge research, accurate blood film reproductions, and practical case studies, the revised edition places invaluable advice into everyday context. This unique resource is essential reading for trainees and practitioners in obstetrics, anesthesia, and hematology, as well as midwives, nurses, and laboratory staff. Clarifying difficult procedures for disease prevention, the guide ensures safety when the stakes are high. Reflecting current evidence-based guidelines, the updated volume is key to improving pregnancy outcomes worldwide.

Download or read book Progressive Brain Disorders in Childhood written by Juan M. Pascual and published by Cambridge University Press. This book was released on 2017-04-20 with total page 507 pages. Available in PDF, EPUB and Kindle. Book excerpt: A review of childhood neurodegenerative and other progressive but non-degenerative disorders to guide their diagnosis and management.

Download or read book Handbook of Vitamins written by Janos Zempleni and published by CRC Press. This book was released on 2013-07-29 with total page 605 pages. Available in PDF, EPUB and Kindle. Book excerpt: Within the last few years, knowledge about vitamins has increased dramatically, resulting in improved understanding of human requirements for many vitamins. This new edition of a bestseller presents comprehensive summaries that analyze the chemical, physiological, and nutritional relationships, as well as highlight newly identified functions, for a