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Neurometabolic Hereditary Diseases of Adults

Record Type:	Language materials, printed : Monograph/item
Title/Author:	Neurometabolic Hereditary Diseases of Adults/ edited by Alessandro P. Burlina.
other author:	Burlina, Alessandro P.
Description:	XIV, 181 p. 29 illus., 16 illus. in color.online resource. :
Contained By:	Springer Nature eBook
Subject:	Neurology . -
Online resource:	https://doi.org/10.1007/978-3-319-76148-0
ISBN:	9783319761480

Neurometabolic Hereditary Diseases of Adults
Neurometabolic Hereditary Diseases of Adults[electronic resource] /edited by Alessandro P. Burlina. - 1st ed. 2018. - XIV, 181 p. 29 illus., 16 illus. in color.online resource.

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. .

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.

ISBN: 9783319761480

Standard No.: 10.1007/978-3-319-76148-0doiSubjects--Topical Terms:

1253459
Neurology .

LC Class. No.: RC346-429.2

Dewey Class. No.: 616.8

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