| 000 | 02489nam a22003615i 4500 | ||
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| 001 | 100074 | ||
| 003 | DE-He213 | ||
| 005 | 20230110040204.0 | ||
| 007 | cr nn 008mamaa | ||
| 008 | 180604s2018 gw | s |||| 0|eng d | ||
| 020 |
_a9783319761480 _9 |
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| 024 | 7 |
_a10.1007/978-3-319-76148-0 _2doi |
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| 040 |
_aES-MaUEC _bspa |
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| 050 | 4 | _aRC627.8 2018 EB | |
| 245 | 1 | 0 |
_aNeurometabolic Hereditary Diseases of Adults _cedited by Alessandro P. Burlina. |
| 264 | 1 |
_aCham _bSpringer International Publishing _c2018 |
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| 300 | _a1 recurso en línea (XIV, 181 páginas 29 ilustraciones, 16 ilustraciones a color) | ||
| 336 |
_2rdacontent _aTexto _btxt |
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| 337 |
_2rdamedia _aelectrónico _bc |
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| 338 |
_2rdacarrier _arecurso electrónico _bcr |
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| 347 |
_atext file _bPDF |
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| 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. | |
| 650 | 7 |
_aNeurología _2embne _9139040 |
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| 650 | 7 |
_aEnfermedades hereditarias metabólicas _9156016 _2embne |
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| 700 | 1 |
_aBurlina, Alessandro P. _eeditor literario |
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| 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 Madrid) |
| 490 | 0 | _aMedicine (Springer-11650) | |
| 988 | _aSpringer_Medicine_2018 | ||
| 998 |
_b01/2019 _dz _ea _feng _ggw _h0 |
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| 999 |
_c100074 _d100074 _x1 |
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