Number of the records: 1
gangliozidózy GM2
SYS d020143 LBL 00000cz--a2200000o--4500 005 20250606214036.5 008 991108|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.435.825.300.300 065 $a C16.320.565.189.435.825.300.300 065 $a C16.320.565.398.641.803.350.300 065 $a C16.320.565.595.554.825.300.300 065 $a C18.452.132.100.435.825.300.300 065 $a C18.452.584.563.641.803.350.300 065 $a C18.452.648.189.435.825.300.300 065 $a C18.452.648.398.641.803.350.300 065 $a C18.452.648.595.554.825.300.300 066 $a 01 $c 03 150 $a gangliozidózy GM2 $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a G(M2) Gangliosidoses $2 eng 450 $w v $a G(M2) gangliozidózy $2 slo 550 $7 sllk_us_auth*d001619 $Y beta-N-Acetylhexosaminidases $w p $a beta-N-acetylhexozaminidázy 665 $a 2007 (2000) $2 eng 665 $a Sandhoff Disease (1966-1999) $2 eng 665 $a Tay-Sachs Disease (1966-1999) $2 eng 680 9-
$i A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes include mutations of enzymes in the BETA-N-ACETYLHEXOSAMINIDASES system or G(M2) ACTIVATOR PROTEIN leading to disruption of normal degradation of GANGLIOSIDES, a subclass of ACIDIC GLYCOSPHINGOLIPIDS. $2 eng 750 -2
$a Gangliosidoses, GM2 $2 eng 980 $x M
Number of the records: 1