MeSH definition : A mammalian beta-hexosaminidase isoform that is a heteromeric protein comprized of
both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase
A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case
of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and 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 a heteromeric protein comprized of
both hexosaminidase alpha and hexosaminidase beta subunits. Deficiency of hexosaminidase
A due to mutations in the gene encoding the hexosaminidase alpha subunit is a case
of TAY-SACHS DISEASE. Deficiency of hexosaminidase A and 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
--- http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=FR&Expert=845 https://www.orpha.net/data/patho/Pro/fr/Urgences_GangliosidoseGM2-frPro21352.pdf 2013 France French hexosaminidase A Tay-Sachs disease, AB variant tay-sachs disease emergency treatment practice guideline tay-sachs disease
--- http://www.snof.org/maladies/tay.html 2002 France French tay-sachs disease child jews hexosaminidase A popular works angiography
Allowable qualifiers