Overview
- 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, monitoring and treatment
- Information on how to deal with diseases with special therapy
- High-quality brain MRI scans
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Table of contents (8 chapters)
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Front Matter
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Back Matter
Keywords
About this book
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.
Editors and Affiliations
About the editor
Bibliographic Information
Book Title: Neurometabolic Hereditary Diseases of Adults
Editors: Alessandro P. Burlina
DOI: https://doi.org/10.1007/978-3-319-76148-0
Publisher: Springer Cham
eBook Packages: Medicine, Medicine (R0)
Copyright Information: Springer International Publishing AG, part of Springer Nature 2018
Hardcover ISBN: 978-3-319-76146-6Published: 15 June 2018
Softcover ISBN: 978-3-030-09414-0Published: 08 January 2019
eBook ISBN: 978-3-319-76148-0Published: 04 June 2018
Edition Number: 1
Number of Pages: XIV, 181
Number of Illustrations: 13 b/w illustrations, 16 illustrations in colour
Topics: Neurology, Metabolic Diseases, Neuroradiology