Nutrition Management of Inherited Metabolic Diseases

Author: Laurie E. Bernstein
Publisher: Springer
ISBN: 3319146211
Format: PDF, ePub, Docs
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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.

Nutrition Management of Patients with Inherited Metabolic Disorders

Author: Phyllis B. Acosta
Publisher: Jones & Bartlett Learning
ISBN: 9781449633127
Format: PDF, Mobi
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5 Stars! Doody's Book Review Written by the foremost nutritionists in the United States, each of whom has more than 15 years of clinical experience providing nutrition management of patients with an inherited metabolic disorder (IMD), Nutrition Management of Patients with Inherited Metabolic Disorders supplies information to enhance the knowledge and skills needed by nutritionists/dietitians and other health care professionals who provide services to patients with IMDs. Many disorders that are disastrous to patients have been diagnosed and managed by diet, improving neurological and physical outcomes. However, nutrition problems still occur, whether due to the quality of the medical foods, inadequate prescription by health care providers or poor diet adherence by the patient. This book describes these problems and helps medical food manufacturers, medical geneticists, nutritionists/dietitians, and other health care providers find alternative forms of nutrients that would provide optimal nutrition and health for the patients.

Pediatric and Adult Nutrition in Chronic Diseases Developmental Disabilities and Hereditary Metabolic Disorders

Author: Shirley W. Ekvall
Publisher: Oxford University Press
ISBN: 0199398933
Format: PDF, ePub, Mobi
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"Packed with information that is useful on a daily basis. This book will be useful for all who care for children with disabilities or chronic disase." --Journal of Parenteral and Enteral Nutrition Food and nutrition studies are more relevant to the practice of medicine than ever before. As scientific understanding of these links has expanded over the last decade, the need for an authoritative reference has never been greater. This fully revised and updated edition of PEDIATRIC AND ADULT NUTRITION IN CHRONIC DISEASES, DEVELOPMENTAL DISABILITIES, AND HEREDITARY METABOLIC DISORDERS offers a comprehensive reference to the nutritional interventions for diseases across the lifespan. Comprising more than 60 topic-based chapters from leading figures in nutrition and medicine, this book is the most up-to-date work on diet as a symptom of, and therapy for, chronic, hereditary, and developmental disorders. Enriched with tables and charts that distill the latest recommendations for nutrient intake, physical activity, this third edition is a convenient and essential resource for busy clinicians and students in nutrition, dietetics, and medical specialties.

Therapy for genetic disease

Author: Theodore Friedmann
Publisher: Oxford University Press, USA
ISBN: 9780192619716
Format: PDF, Kindle
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The biochemical and genetic understanding of human disease has increased explosively in recent years. We now understand that most human disease is the result of interactions between genetic factors and environmental influences, and the combined influences are being identified in our society's most important and burdensome diseases, including cancer, diabetes, and degenerative disorders such as arthritis, Alzheimer's and Parkinson disease. When mutant genes combine with environmental factors to produce a cascade of malfunctions, treatment may take one of many different approaches. This book describes the range of disorders and the treatments which have become available for them as a result of our increased understanding. These treatments range from classical approaches such as the supply of a missing product of enzyme activity, through enzyme or cofactor replacement, to the exciting possibility of therapy directed specifically to the underlying defect, the mutant gene itself.

Fetal and Neonatal Brain Injury

Author: David K. Stevenson
Publisher: Cambridge University Press
ISBN: 9780521806916
Format: PDF, ePub
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A comprehensive survey of fetal and neonatal brain injury arising from hypoxic or ischemic events.

Blumen f r Algernon

Author: Daniel Keyes
Publisher: Klett-Cotta
ISBN: 3608100776
Format: PDF, ePub, Mobi
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Die spannende und erschütternde Geschichte des geistig zurückgebliebenen Charlie Gordon, der durch eine Operation eine überragende Intelligenz erlangt, gehört zu den erfolgreichsten Klassikern der Science-fiction. Der mehrfach preisgekrönte Roman ist in 27 Sprachen übersetzt, millionenfach verkauft und gelesen und unter dem Titel »Charly« verfilmt. Charlie Gordon, ursprünglich kaum des Lesens mächtig, ist zu Forschungszwecken operiert worden und entwickelt eine überragende Intelligenz; schließlich überflügelt er intellektuell und fachlich sogar die Professoren, die das Experiment leiten. Zu seinen Freunden zählt die Maus Algernon - das erste Lebewesen, das mit derselben Methode erfolgreich behandelt wurde. Mit den überwältigenden Fähigkeiten stellen sich für das Genie Charlie jedoch auch die ersten Probleme ein - in der Bäckerei, in der er früher arbeitete, mit seiner Familie, von der er jetzt entdeckt, daß sie ihn nie akzeptiert hat, und im Umgang mit dem weiblichen Geschlecht, vor dem er unerklärliche Angst hat. Als Charlie auf einem Fachkongreß als Attraktion vorgeführt werden soll, flieht er zusammen mit Algernon. Kurze Zeit später zeigen sich im Verhalten der Maus erste Verfallserscheinungen ... Charlies Aufzeichnungen für das Forscherteam geben dem Leser einen atemberaubenden Einblick in seine geistige Entwicklung und das Drama seiner Existenz. Die seit vielen Jahren nicht mehr lieferbaren früheren deutschsprachigen Ausgaben erschienen unter dem Titel »Charly«.