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Galactosemia
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Book Synopsis Inborn Metabolic Diseases by : K. Tada
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.
Book Synopsis Protein Homeostasis Diseases by : Angel L. Pey
Download or read book Protein Homeostasis Diseases written by Angel L. Pey and published by Academic Press. This book was released on 2020-02-13 with total page 452 pages. Available in PDF, EPUB and Kindle. Book excerpt: Protein Homeostasis Diseases: Mechanisms and Novel Therapies offers an interdisciplinary examination of the fundamental aspects, biochemistry and molecular biology of protein homeostasis disease, including the use of natural and pharmacological small molecules to treat common and rare protein homeostasis disorders. Contributions from international experts discuss the biochemical and genetic components of protein homeostasis disorders, the mechanisms by which genetic variants may cause loss-of-function and gain-of-toxic-function, and how natural ligands can restore protein function and homeostasis in genetic diseases. Applied chapters provide guidance on employing high throughput sequencing and screening methodologies to develop pharmacological chaperones and repurpose approved drugs to treat protein homeostasis disorders. - Provides an interdisciplinary examination of protein homeostasis disorders, with an emphasis on treatment strategies employing small natural and pharmacological ligands - Offers applied approaches in employing high throughput sequencing and screening to develop pharmacological chaperones to treat protein homeostasis disease - Gathers expertise from a range of international chapter authors who work across various biological methods and disease specific disciplines of relevance
Book Synopsis Inherited Metabolic Disease in Adults by : Carla E. M. Hollak
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.
Author :Charles R. Scriver Publisher :New York ; Montreal : McGraw-Hill ISBN 13 :9780071363198 Total Pages :6338 pages Book Rating :4.3/5 (631 download)
Book Synopsis The Metabolic & Molecular Bases of Inherited Disease by : Charles R. Scriver
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.
Book Synopsis Nutrition Management of Inherited Metabolic Diseases by : Laurie E. Bernstein
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.
Author :National Organization for Rare Disorders Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781730631 Total Pages :982 pages Book Rating :4.7/5 (36 download)
Book Synopsis NORD Guide to Rare Disorders by : National Organization for Rare Disorders
Download or read book NORD Guide to Rare Disorders written by National Organization for Rare Disorders and published by Lippincott Williams & Wilkins. This book was released on 2003 with total page 982 pages. Available in PDF, EPUB and Kindle. Book excerpt: NORD Guide to Rare Disorders is a comprehensive, practical, authoritative guide to the diagnosis and management of more than 800 rare diseases. The diseases are discussed in a uniform, easy-to-follow format--a brief description, signs and symptoms, etiology, related disorders, epidemiology, standard treatment, investigational treatment, resources, and references.The book includes a complete directory of orphan drugs, a full-color atlas of visual diagnostic signs, and a Master Resource List of support groups and helpful organizations. An index of symptoms and key words offers physicians valuable assistance in finding the information they need quickly.
Book Synopsis Syndromes: Rapid Recognition and Perioperative Implications by : Bruno Bissonnette
Download or read book Syndromes: Rapid Recognition and Perioperative Implications written by Bruno Bissonnette and published by McGraw-Hill Education / Medical. This book was released on 2006-08-10 with total page 988 pages. Available in PDF, EPUB and Kindle. Book excerpt: Essential medical facts on over 2,000 genetic syndromes. Organized alphabetically, this book provides comprehensive medical coverage for each syndrome, from genetic basis to manifestations to related medical considerations.
Book Synopsis Inborn Metabolic Diseases by : John Fernandes
Download or read book Inborn Metabolic Diseases written by John Fernandes and published by Springer Science & Business Media. This book was released on 2006-11-22 with total page 548 pages. Available in PDF, EPUB and Kindle. Book excerpt: This classical textbook has become indispensable for those in the front line dealing with metabolic disorders. The book is aimed at all those involved with this specialty including pediatricians, biochemists, dieticians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This 4th edition has been thoroughly updated and revised. One new chapter on Neonatal screening by tandem MS/MS has been added and several new groups of disorders have been included. The book’s main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.
Book Synopsis Galactosemia by : David Yi-yung Hsia
Download or read book Galactosemia written by David Yi-yung Hsia and published by . This book was released on 1969 with total page 414 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Manual of Endocrinology and Metabolism by : Norman Lavin
Download or read book Manual of Endocrinology and Metabolism written by Norman Lavin and published by Lippincott Williams & Wilkins. This book was released on 2009 with total page 864 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now in its Fourth Edition, this Spiral® Manual presents clinical information and protocols in outline format for evaluation and treatment of most endocrine disorders in children, adolescents, and adults. This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention. Also included are summaries of recent guidelines from the Endocrine Society and the American Academy of Clinical Endocrinology for prevention and management of many endocrine disorders including diabetes, growth hormone deficiency, dysmetabolic syndrome, dyslipidemia, and obesity. New chapters focus on comorbidities of Type II diabetes mellitus in children and use of growth hormone in adults.
Book Synopsis Anesthesia and Uncommon Diseases by : Lee A. Fleisher
Download or read book Anesthesia and Uncommon Diseases written by Lee A. Fleisher and published by Elsevier Health Sciences. This book was released on 2006 with total page 672 pages. Available in PDF, EPUB and Kindle. Book excerpt: Now with new coverage of pediatric topics and fully revised chapters, most by new contributors, this new edition provides the latest knowledge and techniques. Includes a new, more user-friendly page layout with algorithms, shaded boxes, and "Most Common" lists.
Book Synopsis Knees Lifted High by : Georgia Perez
Download or read book Knees Lifted High written by Georgia Perez and published by . This book was released on 2005 with total page 56 pages. Available in PDF, EPUB and Kindle. Book excerpt: Mr. Eagle explains to Native American boys Rain That Dances and Thunder Cloud how being active and getting exercise can help children to stay healthy.
Download or read book Galactose written by Vitor Hugo Pomin and published by Nova Science Publishers. This book was released on 2014 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Galactose (from the Greek galakt which means milk), a C4 epimer of glucose, is a hexose widely used to build up biologically functional glycoconjugates in living organisms. When combined with glucose through covalent bonds, it makes the widely known lactose, a disaccharide largely found in milk. Besides participating in metabolism, galactose also has multiple clinical roles. This book aims to report most of the science concerning the sugar type, galactose. The content of this book is heavily based on scientific results from renowned research groups of different countries. This contributes to the high-quality of this collection. Novelty and updated content are also features of this publication. The six containing chapters discuss: 1) the structure, dietary sources and clinical significance of galactose; 2) clinical relevance of galactose; 3) diet and implications of galactose in galactosemia; 4) recent advances in the science of galacto-oligosaccharides as prebiotics; 5) the structural configuration of galactose and its role in glycan biosyntheses; and 6) regulation of galactose operon in Escherichia coli. This book is recommended to anyone involved or interested in the science of galactose.
Author :Lippincott Williams & Wilkins Publisher :Lippincott Williams & Wilkins ISBN 13 :9780781778992 Total Pages :1464 pages Book Rating :4.7/5 (789 download)
Book Synopsis Professional Guide to Diseases by : Lippincott Williams & Wilkins
Download or read book Professional Guide to Diseases written by Lippincott Williams & Wilkins and published by Lippincott Williams & Wilkins. This book was released on 2009 with total page 1464 pages. Available in PDF, EPUB and Kindle. Book excerpt: Offers a good introduction to the study of diseasees. Each major entry includes information on the causes, signs and symptoms, diagnosis and treatments of various diseases.
Book Synopsis Pediatric Nutrition in Chronic Diseases and Developmental Disorders by : Shirley Ekvall
Download or read book Pediatric Nutrition in Chronic Diseases and Developmental Disorders written by Shirley Ekvall and published by Oxford University Press. This book was released on 2005-03-03 with total page 570 pages. Available in PDF, EPUB and Kindle. Book excerpt: Bridges the gap between nutrition research and its practical application to children with developmental and chronic disorders. After reviewing prenatal and postnatal growth, and the evaluation of nutritional status, the authors provide succinct accounts of a wide range of pediatric disorders that present special nutritional problems. Each chapter is organized to cover biochemical and clinical abnormalities, techniques in nutrition evaluation, nutritional management, and follow-up procedures. Among the diverse conditions covered in this volume are neurogenetic disorders, behavioral disorders, drug toxicity, obesity, cancer, diabetes, and inborn errors of metabolism. A companion study guide is available from the author.
Book Synopsis Neonatal Screening for Inborn Errors of Metabolism by : H. Bickel
Download or read book Neonatal Screening for Inborn Errors of Metabolism written by H. Bickel and published by Springer. This book was released on 2011-11-15 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Although neonatal screening was begun only 20 years ago, and is consequently still in its early stages, it is already a classic example of efficient preventive pediatrics. At present, routine neonatal screening covering a satisfactory percentage of newborn babies is carried out in only a small part ofthe world. For some five diseases enough infants have been screened to give reasonably reliable information about the frequency of these diseases in various populations. Interesting differences are beginning to appear in popula tions of different ethnic and racial background. The medical importance of neonatal screening is especially obvious in metabolic diseases that are not too rare and for which effective treatment depends upon an early diagnosis, such as phenylketonuria, galactosemia, and - a more recent screening pro gram - hypothyroidism. About 1 of 4000 newborns is affected with hypothyroidism and can receive timely substitution with thyroid hormone. Of 34.5 million babies tested for phenylketonuria, 3000 cases have been diagnosed in time to prevent mental retardation by means of dietary therapy.
Download or read book Child Neurology written by John H. Menkes and published by Lippincott Williams & Wilkins. This book was released on 2006 with total page 1210 pages. Available in PDF, EPUB and Kindle. Book excerpt: Revised to incorporate the latest advances in the neurosciences and clinical neurology, the Seventh Edition of this classic text provides practical, cost-effective problem-solving approaches to all diseases affecting the developing nervous system. In clinically relevant terms, the book explains how recent developments in molecular biology, genetics, neurochemistry, neurophysiology, neuropathology, and neuroimaging impact on diagnosis and treatment. Chapters focus on specific disorders or groups of disorders and emphasize differential diagnosis, disease course, treatment, and prognosis. This edition has a new chapter on mitochondrial cytopathies.
