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Inborn Metabolic Diseases, Jean-Marie Saudubray; Matthias R. Baumgartner; Joh


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Автор: Jean-Marie Saudubray; Matthias R. Baumgartner; Joh
Название:  Inborn Metabolic Diseases
ISBN: 9783662497692
Издательство: Springer
Классификация:



ISBN-10: 3662497697
Обложка/Формат: Hardback
Страницы: 658
Вес: 1.60 кг.
Дата издания: 2016
Серия: Medicine & Public Health
Язык: English
Издание: 6th ed. 2016
Иллюстрации: 69 tables, color; xxxi, 658 p.
Размер: 265 x 205 x 32
Читательская аудитория: General (us: trade)
Подзаголовок: Diagnosis and treatment
Ссылка на Издательство: Link
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Поставляется из: Германии
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.
Дополнительное описание: Section I Diagnosis and Treatment: General Principles.- Section II Disorders of Carbohydrate Metabolism.- Section III Disorders of Mitochondrial Energy Metabolism.- Section IV Disorders of Amino Acid Metabolism and Transport.- Section V Vitamin-Responsive



Inherited Metabolic Diseases: a clinical Approach.

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.

Pediatric Endocrinology And Inborn Errors Of Metabolism 2008

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
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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.

A Clinical Guide to Inherited Metabolic Diseases

Автор: Joe T. R. Clarke
Название: A Clinical Guide to Inherited Metabolic Diseases
ISBN: 0521614996 ISBN-13(EAN): 9780521614993
Издательство: Cambridge Academ
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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.

Inborn Errors of Development

Автор: Epstein, Charles J.; etc.
Название: Inborn Errors of Development
ISBN: 0195306910 ISBN-13(EAN): 9780195306910
Издательство: Oxford Academ
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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.

Biomarkers in Inborn Errors of Metabolism

Автор: Garg, Uttam
Название: Biomarkers in Inborn Errors of Metabolism
ISBN: 0128028963 ISBN-13(EAN): 9780128028964
Издательство: Elsevier Science
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Цена: 13298.00 р.
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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.

Inborn Metabolic Diseases

Автор: Fernandes
Название: Inborn Metabolic Diseases
ISBN: 3540287833 ISBN-13(EAN): 9783540287834
Издательство: Springer
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Цена: 21655.00 р.
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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.

Pediatric and Adult Nutrition in Chronic Diseases, Developmental Disabilities, and Hereditary Metabolic Disorders Prevention, Assessment, and Treatment  (Hardback)

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
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Цена: 21780.00 р.
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.


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