Автор: Hoffmann, Georg F.; Zschocke, Johannes; Nyhan, William L. (Eds.) Название: Inherited Metabolic Diseases: a clinical Approach. ISBN: 3540747222 ISBN-13(EAN): 9783540747222 Издательство: Springer Цена: 107130.00 T Наличие на складе: Поставка под заказ.
Автор: Scriver Название: The Metabolic And Molecular Bases Of Inherited Diseases (4 Vol Set): Ise ISBN: 0071163360 ISBN-13(EAN): 9780071163361 Издательство: McGraw-Hill Цена: 316660.00 T Наличие на складе: Поставка под заказ. Описание: "This book must be in a medical library" - "Annals of Internal Medicine", review of prior edition. From the most active, respected clinicians and researchers currently exploring the human genome comes the newest edition of this masterwork on genetic inheritance - with expanded coverage of cancer, and much more. It covers all that is currently known in the field, including the effects of genes, their locations on the chromosomes, and treatment options.
Автор: Blau Название: Physician`s Guide to the Lab.Diagn.of Metabolic Diseases ISBN: 354042542X ISBN-13(EAN): 9783540425427 Издательство: Springer Цена: 231990.00 T Наличие на складе: Поставка под заказ. Описание: This is a physician's guide to laboratory methods for diagnosis of metabolic disease - normal valves, abnormal valves, biochemical pathways, clinical features, treatment - presented largely in the form of charts and diagrams. It will help them decide which tests to order and how to interpret them. The work should be of interest to paediatricians, lab scientists and geneticists.
Автор: Kyriakie Sarafoglou, Georg Hoffmann, Karl Roth Название: Pediatric Endocrinology And Inborn Errors Of Metabolism 2008 ISBN: 0071439153 ISBN-13(EAN): 9780071439152 Издательство: McGraw-Hill Рейтинг: Цена: 86930.00 T Наличие на складе: Поставка под заказ. Описание: Provides guidance on the diagnosis and management of endocrine and metabolic disorders in children. This book offers coverage of the principles of assessing signs and symptoms, clinical reviews, and direction on laboratory tests.
Автор: Epstein, Charles J.; etc. Название: Inborn Errors of Development ISBN: 0195306910 ISBN-13(EAN): 9780195306910 Издательство: Oxford Academ Рейтинг: Цена: 205920.00 T Наличие на складе: Поставка под заказ. Описание: Inborn Errors of Development is the definitive work on genetically caused abnormalities of human development. Despite the explosion in genetic advances, the causes of two-thirds of all birth defects remain unknown. However, we are on the brink of a revolution in this area, and this book is at the forefront. It is the first book to connect the disease-causing gene to its biochemical pathway and to the structural/functional disorder. Mutations of the gene, the clinical picture, genetic counselling and prognosis, and any known treatments are discussed.
Автор: Hosking Md Frcp Название: Treatment of Metabolic Bone Disease ISBN: 1853177555 ISBN-13(EAN): 9781853177552 Издательство: Informa Цена: 46600.00 T Наличие на складе: Нет в наличии. Описание: A comprehensive review of pharmacologic treatments for metabolic bone disease.
Автор: Joe T. R. Clarke Название: A Clinical Guide to Inherited Metabolic Diseases ISBN: 0521614996 ISBN-13(EAN): 9780521614993 Издательство: Cambridge Academ Рейтинг: Цена: 116160.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: This user-friendly clinical handbook provides a clear and concise overview of how to go about recognizing and diagnosing inherited metabolic diseases. To help make the correct diagnosis, the book is organized according to the clinical symptoms presenting in these patients. This new edition includes much new and up-dated material.
Автор: Ekvall, Shirley W.; Ekvall, Valli K. Название: Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders Prevention, Assessment, and Treatment (Hardback) ISBN: 0199398917 ISBN-13(EAN): 9780199398911 Издательство: Oxford Academ Рейтинг: Цена: 145200.00 T Наличие на складе: Есть у поставщика Поставка под заказ. Описание: "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 Parental and Enteral NutritionThis 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.
Автор: Jean-Marie Saudubray; Matthias R. Baumgartner; Joh Название: Inborn Metabolic Diseases ISBN: 3662497697 ISBN-13(EAN): 9783662497692 Издательство: Springer Рейтинг: Цена: 167700.00 T Наличие на складе: Поставка под заказ. Описание: This work is recognised as the standard textbook for professionals involved in the diagnosis and management of inborn errors of metabolism (IEM) and an essential resource in this multidisciplinary field. For the 6th edition all 43 chapters have been newly written or revised by authors with particular expertise in their subject areas. Contents: A clinical and biochemical approach to the recognition and diagnosis of IEM with algorithms to symptoms, signs, and syndromes in patients of all ages; Emergency treatments; Medications – Separate comprehensive sections on IEM of: Carbohydrates; Mitochondrial Energy; Amino and organic acids; Vitamin-responsive defects; Neurotransmitter and Small peptides, Lipid and Bile Acids; Nucleic Acid and Heme; Organelles – Disorders affecting the synthesis and remodelling of complex lipids and fatty acid homeostasis are now included.
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