TY  - GEN
AU  - Delnooz,C C S
AU  - Lefeber,D J
AU  - Langemeijer,S M C
AU  - Hoffjan,S
AU  - Dekomien,G
AU  - Zwarts,M J
AU  - Van Engelen,B G M
AU  - Wevers,R A
AU  - Schelhaas,H J
AU  - van de Warrenburg,B P C
TI  - New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype
SN  - 1468-330X
PY  - 2010///0916
KW  - Acetylglucosaminidase
KW  - blood
KW  - Adult
KW  - Age of Onset
KW  - Cerebellar Ataxia
KW  - complications
KW  - Female
KW  - Humans
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Motor Neuron Disease
KW  - Mutation
KW  - Phenotype
KW  - Sandhoff Disease
KW  - beta-Hexosaminidase beta Chain
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/jnnp.2009.177089
ER  -