MeSH definition : A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits.
Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase
beta subunit is a case of SANDHOFF DISEASE.;
A mammalian beta-hexosaminidase isoform that is comprized of hexosaminidase beta subunits.
Deficiency of hexosaminidase B due to mutations in the gene encoding the hexosaminidase
beta subunit is a case of SANDHOFF DISEASE.
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=796 http://www.orpha.net/data/patho/Pro/fr/Urgences_GangliosidoseGM2-frPro21352.pdf 2013 France French sandhoff disease rare diseases signs and symptoms sandhoff disease sandhoff disease hexosaminidase A hexosaminidase B sandhoff disease emergency treatment practice guideline