Neurometabolic hereditary diseases of adults /

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Bibliographic Details
Imprint:Cham : Springer, 2018.
Description:1 online resource
Language:English
Subject:
Format: E-Resource Book
URL for this record:http://pi.lib.uchicago.edu/1001/cat/bib/11664053
Hidden Bibliographic Details
Other authors / contributors:Burlina, Alessandro P.
ISBN:9783319761480
331976148X
3319761463
9783319761466
9783319761473
3319761471
9783030094140
3030094146
9783319761466
Digital file characteristics:text file
PDF
Notes:Online resource; title from PDF title page (EBSCO, viewed June 12, 2018).
Summary: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.
Other form:Printed edition: 9783319761466
Standard no.:10.1007/978-3-319-76148-0