| 书目名称 | Physician‘s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases | | 编辑 | Nenad Blau,Carlo Dionisi Vici,Clara D. M. van Karn | | 视频video | | | 概述 | About 1200 conditions now featured.Offers step-by-step algorithms for diagnosis.Provides age-related pathological values.Includes established and experimental therapies.Unique source of reference info | | 图书封面 |  | | 描述 | .This updated and enlarged second edition is a unique source of information on the diagnosis, treatment, and follow-up of metabolic diseases..The clinical and laboratory data characteristic of rare metabolic conditions can be bewildering for clinicians and laboratory personnel alike – reference laboratory data is scattered, and clinical descriptions can be obscure. The new Physician’s Guide with the additional more than 600 diseases now featured, documents 1200 conditions grouped according to type of disorder, organ system affected (e.g. liver, kidney, etc) or phenotype (e.g. neurological, hepatic, etc). It includes relevant clinical findings and highlights the pathological values for diagnostic metabolites. Guidance on appropriate biochemical genetic testing is also provided and established experimental therapeutic protocols are described, with recommendations on follow-up and monitoring..The authors are acknowledged experts, and the book is a valuable desk reference for all who deal with inherited metabolic diseases..Chapter 73 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com. | | 出版日期 | Book 2022Latest edition | | 关键词 | Inborn errors of metabolism; Biochemical genetics; Metabolomics; Orphan drugs; Nutrition | | 版次 | 2 | | doi | https://doi.org/10.1007/978-3-030-67727-5 | | isbn_softcover | 978-3-030-67729-9 | | isbn_ebook | 978-3-030-67727-5 | | copyright | Springer Nature Switzerland AG 2022 |
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书目名称Physician‘s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases影响因子(影响力)学科排名
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书目名称Physician‘s Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases被引频次
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发表于 2025-3-21 20:04:48
