Inborn Metabolic Diseases, Jean-Marie Saudubray; Matthias R. Baumgartner; Joh
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: 16070.00 р. Наличие на складе: Поставка под заказ.
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: 13040.00 р. 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: Joe T. R. Clarke Название: A Clinical Guide to Inherited Metabolic Diseases ISBN: 0521614996 ISBN-13(EAN): 9780521614993 Издательство: Cambridge Academ Рейтинг: Цена: 17424.00 р. 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: Epstein, Charles J.; etc. Название: Inborn Errors of Development ISBN: 0195306910 ISBN-13(EAN): 9780195306910 Издательство: Oxford Academ Рейтинг: Цена: 30888.00 р. 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: Garg, Uttam Название: Biomarkers in Inborn Errors of Metabolism ISBN: 0128028963 ISBN-13(EAN): 9780128028964 Издательство: Elsevier Science Рейтинг: Цена: 13298.00 р. Наличие на складе: Поставка под заказ.
Описание:
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.
Автор: Fernandes Название: Inborn Metabolic Diseases ISBN: 3540287833 ISBN-13(EAN): 9783540287834 Издательство: Springer Рейтинг: Цена: 21655.00 р. Наличие на складе: Поставка под заказ.
Описание: Emphasises clinical presentation and treatment in acute and chronic situation. This book contains a chapter on Neonatal screening by tandem MS/MS and includes several groups of disorders. The first chapter presents the clinical approach to inherited metabolic disease using many algorithms and tables.
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.
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