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Neurometabolic Hereditary Diseases of Adults (Hardcover, 1st ed. 2018)
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Neurometabolic Hereditary Diseases of Adults (Hardcover, 1st ed. 2018)
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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.
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