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999			_c11277 _d11277
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008			180604s2018 gw | s |||| 0|eng d
020			_a9783319761480
024	7		_a10.1007/978-3-319-76148-0 _2doi
040			_aES-MaUEC _bspa _dES-VaUE
050		4	_aRC627.8 _b.N48 2018 EB
245	1	0	_aNeurometabolic Hereditary Diseases of Adults _cedited by Alessandro P. Burlina.
264		1	_aCham _bSpringer International Publishing : _bImprint: Springer _c2018.
300			_a1 recurso en línea (XIV, 181 páginas 29 ilustraciones, 16 ilustraciones a color)
336			_2rdacontent _aTexto (visual) _btxt
337			_2rdamedia _aelectrónico _bc
338			_2rdacarrier _arecurso electrónico _bcr
347			_atext file _bPDF
490	0		_aMedicine (Springer-11650)
505	0		_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. .
520	3		_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.
988			_aEBSPRINGER_2018
650		7	_aNeurología _9139040 _2embne
650		7	_aEnfermedades hereditarias metabólicas _9156016 _2embne
700	1		_aBurlina, Alessandro P. _eeditor literario
710	2		_aSpringerLink (Online service) _0http://id.loc.gov/authorities/names/no2005046756 _0http://viaf.org/viaf/148105729 _9106996
776	0	8	_iEdición impresa: _z9783319761466
776	0	8	_iEdición impresa: _z9783319761473
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=https://doi.org/10.1007/978-3-319-76148-0 _zAcceso a este recurso digital (usuarios Universidad Europea de Valencia)
942			_2lcc _cLE
998			_db _feng _ggw _h0