000 | 01561 a2200469 4500 | ||
---|---|---|---|
005 | 20250516001143.0 | ||
264 | 0 | _c20100916 | |
008 | 201009s 0 0 eng d | ||
022 | _a1468-330X | ||
024 | 7 |
_a10.1136/jnnp.2009.177089 _2doi |
|
040 |
_aNLM _beng _cNLM |
||
100 | 1 | _aDelnooz, C C S | |
245 | 0 | 0 |
_aNew cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. _h[electronic resource] |
260 |
_bJournal of neurology, neurosurgery, and psychiatry _cSep 2010 |
||
300 |
_a968-72 p. _bdigital |
||
500 | _aPublication Type: Case Reports; Journal Article | ||
650 | 0 | 4 |
_aAcetylglucosaminidase _xblood |
650 | 0 | 4 | _aAdult |
650 | 0 | 4 | _aAge of Onset |
650 | 0 | 4 |
_aCerebellar Ataxia _xcomplications |
650 | 0 | 4 | _aFemale |
650 | 0 | 4 | _aHumans |
650 | 0 | 4 | _aMagnetic Resonance Imaging |
650 | 0 | 4 | _aMale |
650 | 0 | 4 | _aMiddle Aged |
650 | 0 | 4 |
_aMotor Neuron Disease _xcomplications |
650 | 0 | 4 | _aMutation |
650 | 0 | 4 | _aPhenotype |
650 | 0 | 4 |
_aSandhoff Disease _xblood |
650 | 0 | 4 |
_abeta-Hexosaminidase beta Chain _xgenetics |
700 | 1 | _aLefeber, D J | |
700 | 1 | _aLangemeijer, S M C | |
700 | 1 | _aHoffjan, S | |
700 | 1 | _aDekomien, G | |
700 | 1 | _aZwarts, M J | |
700 | 1 | _aVan Engelen, B G M | |
700 | 1 | _aWevers, R A | |
700 | 1 | _aSchelhaas, H J | |
700 | 1 | _avan de Warrenburg, B P C | |
773 | 0 |
_tJournal of neurology, neurosurgery, and psychiatry _gvol. 81 _gno. 9 _gp. 968-72 |
|
856 | 4 | 0 |
_uhttps://doi.org/10.1136/jnnp.2009.177089 _zAvailable from publisher's website |
999 |
_c20132010 _d20132010 |