| 书目名称 | Inborn Metabolic Diseases | | 副标题 | Diagnosis and Treatm | | 编辑 | John Fernandes,Jean-Marie Saudubray,N. R. M. Buist | | 视频video | | | 图书封面 |  | | 描述 | Five years after its predecessor, the second edition of Inborn Metabolic Diseases: Diagnosis and Treatment is appearing in an almost completely revised form. Its main feature is an even stronger emphasis on the clinical presentation of inborn errors of metabolism. For that reason, clinical approach has not only remained the central theme of the first chapter, but also become the starting point for all chapters dealing with either a single specific disorder or a group of diseases. Particular attention has been paid to clinical presentation under acute, subacute or chronic forms, to the appearance of initially aspecific symptoms evolving into a more characteristic syn drome at a later age, or vice versa, to clinical heterogeneity and its relation to genetic and biochemical heterogeneity. Brief reference to other diagnostic possibilities is also given in all disease-related chapters. Description of the metabolic derangements is restricted to the main pathophysiological features which provide the rationale for diagnosis and treatment. Methods to ascertain the diagnosis and diagnostic tests are listed comprehensively. As in the first edition, treatment is discussed extensively. Details | | 出版日期 | Book 19952nd edition | | 关键词 | Aminosäuren; Kohlenhydrate; Lipidstoffwechsel; Neurotransmitter; Stoffwechselstörungen; diagnosis; inborn | | 版次 | 2 | | doi | https://doi.org/10.1007/978-3-662-03147-6 | | isbn_ebook | 978-3-662-03147-6 | | copyright | Springer-Verlag Berlin Heidelberg 1995 |
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发表于 2025-3-21 18:19:18
