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