Preferred Label : hexosaminidase B;

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.;

MeSH synonym : hex b;

Registry Number MeSH : EC 3.2.1.52;

Is substance : O;

UNII : EC 3.2.1.52;

Details


Main resources

You can consult :

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

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01/11/2024


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