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000843382 019__ $$a1040652275
000843382 020__ $$a9783319761480$$q(electronic book)
000843382 020__ $$a331976148X$$q(electronic book)
000843382 020__ $$z9783319761466
000843382 0247_ $$a10.1007/978-3-319-76148-0$$2doi
000843382 035__ $$aSP(OCoLC)on1039094733
000843382 035__ $$aSP(OCoLC)1039094733$$z(OCoLC)1040652275
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000843382 049__ $$aISEA
000843382 050_4 $$aRC627.8
000843382 08204 $$a616.39042$$223
000843382 24500 $$aNeurometabolic hereditary diseases of adults /$$cAlessandro P. Burlina, editor.
000843382 264_1 $$aCham :$$bSpringer,$$c2018.
000843382 300__ $$a1 online resource
000843382 336__ $$atext$$btxt$$2rdacontent
000843382 337__ $$acomputer$$bc$$2rdamedia
000843382 338__ $$aonline resource$$bcr$$2rdacarrier
000843382 347__ $$atext file$$bPDF$$2rda
000843382 5050_ $$aPrinciples 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. .
000843382 506__ $$aAccess limited to authorized users.
000843382 520__ $$aThis 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.
000843382 588__ $$aOnline resource; title from PDF title page (viewed June 12, 2018)
000843382 650_0 $$aMetabolism, Inborn errors of.
000843382 650_0 $$aMetabolism$$xDisorders$$xGenetic aspects.
000843382 650_0 $$aNeurology.
000843382 7001_ $$aBurlina, Alessandro P.
000843382 77608 $$iPrint version: $$z9783319761466
000843382 852__ $$bebk
000843382 85640 $$3SpringerLink$$uhttps://univsouthin.idm.oclc.org/login?url=http://link.springer.com/10.1007/978-3-319-76148-0$$zOnline Access$$91397441.1
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000843382 980__ $$aEBOOK
000843382 980__ $$aBIB
000843382 982__ $$aEbook
000843382 983__ $$aOnline
000843382 994__ $$a92$$bISE