Neurometabolic hereditary diseases of adults / Alessandro P. Burlina, editor.
2018
RC627.8
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Details
Title
Neurometabolic hereditary diseases of adults / Alessandro P. Burlina, editor.
ISBN
9783319761480 (electronic book)
331976148X (electronic book)
9783319761466
331976148X (electronic book)
9783319761466
Published
Cham : Springer, 2018.
Language
English
Description
1 online resource
Other Standard Identifiers
10.1007/978-3-319-76148-0 doi
Call Number
RC627.8
Dewey Decimal Classification
616.39042
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.
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Access limited to authorized users.
Digital File Characteristics
text file PDF
Source of Description
Online resource; title from PDF title page (viewed June 12, 2018)
Added Author
Burlina, Alessandro P.
Available in Other Form
Print version: 9783319761466
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Table of 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. .
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. .