| 書目名稱 | Inherited Neurological Disorders | | 副標(biāo)題 | Diagnosis and Case S | | 編輯 | Zhi-Ying Wu | | 視頻video | http://file.papertrans.cn/467/466464/466464.mp4 | | 概述 | The first book in this field.Presents 40 cases of inherited neurological disorders with genetic diagnosis or pathological confirming.Provides systemic review about the specific diseases.Benefits from | | 圖書封面 |  | | 描述 | .This book provides up-to-date information on various inherited neurological disorders, presenting 40 cases of inherited neurological disorders with genetic diagnosis and/or pathological confirming. These disorders include cerebellar ataxia (SCA1, SCA2, SCA3, etc.), epileptic attacks related disorders (MELAS, MERRF, TSC, etc.), motor neuron related disorders (ALS, HSP, CMT, etc.), movement disorders (PD, PKD, DRD, etc.), ion channel diseases (hypokalemic periodic paralysis, normal potassium periodic paralysis), muscle diseases (DMD, FSHD, LSM, etc.), and dementia and psychiatric disorders (HD, CADASIL, CARASIL, etc.).. .With the format of case study, one type of diseases is discussed on each chapter, basically consisted of 5 sections.. Section 1. focuses on the detailed clinical features, physical examination and hematological examination, while .Section 2. addresses questions regarding diagnosis and differential diagnosis. Additional information such as imagingmaterial and genetic/pathological results are provided in .Section 3., followed by the final diagnosis in .Section 4.. .Section 5. presents a systemic review for each specific disease. The book will benefit clinicians especi | | 出版日期 | Book 2017 | | 關(guān)鍵詞 | Neurologicalgenetic disorders; Clinical Reasoning; Genetic confirming; Pathologic diagnosis; Systematic | | 版次 | 1 | | doi | https://doi.org/10.1007/978-981-10-4196-9 | | isbn_softcover | 978-981-13-5075-7 | | isbn_ebook | 978-981-10-4196-9 | | copyright | Springer Nature Singapore Pte Ltd. 2017 |
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