Delnooz, C C S

New cases of adult-onset Sandhoff disease with a cerebellar or lower motor neuron phenotype. [electronic resource] - Journal of neurology, neurosurgery, and psychiatry Sep 2010 - 968-72 p. digital

Publication Type: Case Reports; Journal Article

1468-330X

10.1136/jnnp.2009.177089 doi


Acetylglucosaminidase--blood
Adult
Age of Onset
Cerebellar Ataxia--complications
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Motor Neuron Disease--complications
Mutation
Phenotype
Sandhoff Disease--blood
beta-Hexosaminidase beta Chain--genetics