| 书目名称 | Neurometabolic Hereditary Diseases of Adults |
| 编辑 | Alessandro P. Burlina |
| 视频video | |
| 概述 | Describes only treatable inherited metabolic disease affecting the nervous system, to increase practical relevance to general neurologist in everyday clinical practice.Focus on diagnostic approach, mo |
| 图书封面 |  |
| 描述 | .This practical book describes only neurometabolic hereditary diseases which have a specific treatment and encourages the general neurologist to think of the most common neurometabolic hereditary diseases, which he might have seen and never considered in the differential diagnosis. Information regarding how to deal with diseases with special therapy is provided (i.e. enzymatic replacement therapy in Fabry disease and Pompe disease), as is information on diseases which are not easily recognized (i.e. Niemann-Pick disease type C), and diseases with clinical features mimicking other common neurodegenrative diseases (i.e. Wilson‘s disease). Neurometabolic Hereditary Diseases is written with a clinical focus for adult neurologists working in general hospitals.. |
| 出版日期 | Book 2018 |
| 关键词 | Fabry disease; Niemann-Pick type C; Pompe disease; Treatable neurometabolic disease; Wilson disease; neur |
| 版次 | 1 |
| doi | https://doi.org/10.1007/978-3-319-76148-0 |
| isbn_softcover | 978-3-030-09414-0 |
| isbn_ebook | 978-3-319-76148-0 |
| copyright | Springer International Publishing AG, part of Springer Nature 2018 |
发表于 2025-3-21 16:35:13
