Number of the records: 1
hexózaminidáza A
SYS d054818 LBL 00000nz--a2200000n--4500 005 20250606214840.2 008 080101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $d BA006 065 $a D08.811.277.450.483.180.750 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Hex A $2 eng 450 $w v $a Hex A $2 slo 550 $7 sllk_us_auth*d012497 $Y Sandhoff Disease $w p $a Sandhoffova choroba 550 $7 sllk_us_auth*d013661 $Y Tay-Sachs Disease $w p $a Tay-Sachsova choroba 665 $a 2008(1987); for HEXOSAMINIDASE A use BETA-N-ACETYLHEXOSAMINIDASE 1987-2007 $2 eng 665 $a beta-N-Acetylhexosaminidases (1999-2007) $2 eng 680 9-
$i 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. $2 eng 680 $a for deficiency consider: SANDHOFF DISEASE or TAY-SACHS DISEASE $2 eng 750 -2
$a Hexosaminidase A $2 eng 980 $x M
Number of the records: 1