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" Neurometabolic hereditary diseases of adults / "


Document Type : BL
Record Number : 865061
Title & Author : Neurometabolic hereditary diseases of adults /\ Alessandro P. Burlina, editor.
Publication Statement : Cham :: Springer,, 2018.
Page. NO : 1 online resource
ISBN : 3030094146
: : 3319761463
: : 3319761471
: : 331976148X
: : 9783030094140
: : 9783319761466
: : 9783319761473
: : 9783319761480
: 9783319761466
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.
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 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.
Subject : Metabolism-- Disorders-- Genetic aspects.
Subject : Metabolism, Inborn errors of.
Subject : Neurology.
Subject : HEALTH FITNESS-- Diseases-- General.
Subject : MEDICAL-- Clinical Medicine.
Subject : MEDICAL-- Diseases.
Subject : MEDICAL-- Evidence-Based Medicine.
Subject : MEDICAL-- Internal Medicine.
Subject : Metabolism, Inborn errors of.
Subject : Metabolism.
Subject : Neurology clinical neurophysiology.
Subject : Neurology.
Subject : Radiology.
Dewey Classification : ‭616.39042‬
LC Classification : ‭RC627.8‬
Added Entry : Burlina, Alessandro P.
copyhttps://lib.clisel.com/site/catalogue/865061
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