| 書目名稱 | Inborn Metabolic Diseases | | 副標題 | Diagnosis and Treatm | | 編輯 | John Fernandes,Jean-Marie Saudubray,John H. Walter | | 視頻video | http://file.papertrans.cn/464/463192/463192.mp4 | | 概述 | Main feature is the strong emphasis on clinical presentation and treatment in acute and chronic situation.Clinical approach is the starting point for each chapter.Reference to diagnostic options.Inclu | | 圖書封面 |  | | 描述 | Since the publication of the first edition sixteen years ago, Inborn Metabolic Diseases – Diagnosis and Treatment has become a classic textbook, indispensable for those involved in the care of children and adults with inborn errors of metabolism, including pediatricians, biochemists, die- th cians, neurologists, internists, geneticists, psychologists, nurses, and social workers. This new 4 edition has been extensively revised. An additional clinician, John Walter, has joined the three other editors, there is a new chapter on neonatal screening, including tandem MS/MS, and several new disorders have been included, for example defects involving the pentose phosphate pathway (polyol metabolism) and disorders of glucose transport. However, the focus of the book remains clinical, describing symptoms and signs at presentation, how to come to a diagnosis and methods for treatment. As with the previous edition, the book can be used in two main ways. If the diagnosis is not known the reader should first refer to Chapter 1. This chapter, which includes a number of algorithms and tables, lists the clinical findings under four main headings: the neonatal period and early infancy; acute present | | 出版日期 | Book 20064th edition | | 關(guān)鍵詞 | Internist; inborn errors of metabolism; metabolic disease; metabolic diseases; metabolic disorder; metabo | | 版次 | 4 | | doi | https://doi.org/10.1007/978-3-540-28785-8 | | isbn_ebook | 978-3-540-28785-8 | | copyright | Springer-Verlag Berlin Heidelberg 2006 |
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