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Neurometabolic hereditary diseases o...

Burlina, Alessandro P.

Neurometabolic hereditary diseases of adults

Record Type:	Electronic resources : Monograph/item
Title/Author:	Neurometabolic hereditary diseases of adultsedited by Alessandro P. Burlina.
other author:	Burlina, Alessandro P.
Published:	Cham :Springer International Publishing :2018.
Description:	xiv, 181 p. :digital ;24 cm.
Contained By:	Springer eBooks
Subject:	Metabolism, Inborn errors of.
Online resource:	http://dx.doi.org/10.1007/978-3-319-76148-0
ISBN:	9783319761480$q(electronic bk.)

Neurometabolic hereditary diseases of adults
Neurometabolic hereditary diseases of adults[electronic resource] /edited by Alessandro P. Burlina. - Cham :Springer International Publishing :2018. - xiv, 181 p. :digital ;24 cm.

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$q(electronic bk.)

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

558886
Metabolism, Inborn errors of.

LC Class. No.: RC627.8 / .N487 2018

Dewey Class. No.: 616.39042

Neurometabolic hereditary diseases of adults
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245 0 0 $a Neurometabolic hereditary diseases of adults $h [electronic resource] / $c edited by Alessandro P. Burlina.
260 $a Cham : $b Springer International Publishing : $b Imprint: Springer, $c 2018.
300 $a xiv, 181 p. : $b digital ; $c 24 cm.
505 0 $a 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.
520 $a 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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650 0 $a Metabolism $x Disorders $x Genetic aspects. $3 456228
650 0 $a Neurology. $3 211583
650 1 4 $a Medicine & Public Health. $3 273799
650 2 4 $a Metabolic Diseases. $3 274217
650 2 4 $a Neuroradiology. $3 274937
700 1 $a Burlina, Alessandro P. $3 819263
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