| 000 | 01401 a2200349 4500 | ||
|---|---|---|---|
| 005 | 20250516202748.0 | ||
| 264 | 0 | _c20150202 | |
| 008 | 201502s 0 0 eng d | ||
| 022 | _a1532-2130 | ||
| 024 | 7 |
_a10.1016/j.ejpn.2014.02.005 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aGautschi, Matthias | |
| 245 | 0 | 0 |
_aLate diagnosis of fucosidosis in a child with progressive fixed dystonia, bilateral pallidal lesions and red spots on the skin. _h[electronic resource] |
| 260 |
_bEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _cJul 2014 |
||
| 300 |
_a516-9 p. _bdigital |
||
| 500 | _aPublication Type: Case Reports; Journal Article | ||
| 650 | 0 | 4 | _aChild |
| 650 | 0 | 4 |
_aDystonia _xcomplications |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aFucosidosis _xcomplications |
| 650 | 0 | 4 |
_aGlobus Pallidus _xpathology |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMagnetic Resonance Imaging |
| 650 | 0 | 4 |
_aSkin Diseases _xcomplications |
| 700 | 1 | _aMerlini, Laura | |
| 700 | 1 | _aCalza, Anne-Marie | |
| 700 | 1 | _aHayflick, Susan | |
| 700 | 1 | _aNuoffer, Jean-Marc | |
| 700 | 1 | _aFluss, Joel | |
| 773 | 0 |
_tEuropean journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society _gvol. 18 _gno. 4 _gp. 516-9 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1016/j.ejpn.2014.02.005 _zAvailable from publisher's website |
| 999 |
_c23646741 _d23646741 |
||