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Neurometabolic hereditary diseases of adults

Author: Alessandro P Burlina
Publisher: Cham : Springer, 2018.
Edition/Format:   eBook : Document : EnglishView all editions and formats
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  Read more...
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Genre/Form: Electronic books
Additional Physical Format: Printed edition:
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Alessandro P Burlina
ISBN: 9783319761480 331976148X 3319761463 9783319761466 9783319761473 3319761471 9783030094140 3030094146
OCLC Number: 1039094733
Description: 1 online resource
Contents: Principles of human genetics and Mendelian inheritance --
Newborn screening and high risk screening population for neurological inherited metabolic diseases --
Neuroimaging of inherited diseases of adulthood --
Fabry Disease --
Pompe Disease --
Niemann-Pick Disease Type C --
Wilson's Disease --
Homocystinuria.
Responsibility: Alessandro P. Burlina, editor.

Abstract:

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  Read more...

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