Tyler Mark Pierson Paola A Torres Bei-Jin Zeng Allan M Glanzman David Adams Richard S Finkel Don J Mahuran Gregory M Pastores Gihan I Tennekoon Edwin H Kolodny
10.1016/j.ymgme.2012.10.023
Mol Genet Metab
2013 Jan;108(1):65-9.
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/23158871/
Motor Neuron Disease / genetics Mutation beta-N-Acetylhexosaminidases / genetics
Motor Neuron Disease / genetics Mutation beta-N-Acetylhexosaminidases / genetics Case Reports Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't Age of Onset Child Female Humans Motor Neuron Disease / psychology beta-N-Acetylhexosaminidases
PMC3601980
23158871
Juvenile-onset motor neuron disease caused by novel mutations in β-hexosaminidase
2013