Počet záznamov: 1
hexózaminidáza A
SYS d054818 LBL 00000nx--j2200000---45-- 005 20240119201457.1 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a hexózaminidáza A $x AD $x AE $x AI $x AN $x BI $x BL $x CF $x CH $x CL $x CS $x DE $x EC $x GE $x HI $x IM $x IP $x ME $x PD $x PH $x PK $x PO $x RE $x SD $x ST $x TO $x TU $x UL $x UR $8 slo 300 1-
$a 2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007 $8 eng 300 1-
$a beta-N-Acetylhexosaminidases (1999-2007) $8 eng 330 1-
$a 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. $8 eng 450 $a Hex A $5 e $8 eng 450 $a Hex A $5 e $8 slo 550 $3 sllk_un_auth*d012497 $Y Sandhoff Disease $5 F $a Sandhoffova choroba 550 $3 sllk_un_auth*d013661 $Y Tay-Sachs Disease $5 F $a Tay-Sachsova choroba 686 $a D08.811.277.450.483.180.750 750 $a Hexosaminidase A $8 eng 801 -0
$a SK $b BA006 $c 20080318 801 -2
$a SK $b BA006 $c 20231124 820 $a for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE $8 eng 980 $x M
Počet záznamov: 1