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gangliozidózy GM2
SYS d020143 LBL 00000cx--j22000003--45-- 005 20240119201348.5 100 $a 19991108csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2007 (2000) $8 eng 300 1-
$a Sandhoff Disease (1966-1999) $8 eng 300 1-
$a Tay-Sachs Disease (1966-1999) $8 eng 330 1-
$a 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. $8 eng 450 $a G(M2) Gangliosidoses $5 e $8 eng 450 $a G(M2) gangliozidózy $5 e $8 slo 550 $3 sllk_un_auth*d001619 $Y beta-N-Acetylhexosaminidases $5 F $a beta-N-acetylhexozaminidázy 686 $a C10.228.140.163.100.435.825.300.300 686 $a C16.320.565.189.435.825.300.300 686 $a C16.320.565.398.641.803.350.300 686 $a C16.320.565.595.554.825.300.300 686 $a C18.452.132.100.435.825.300.300 686 $a C18.452.584.563.641.803.350.300 686 $a C18.452.648.189.435.825.300.300 686 $a C18.452.648.398.641.803.350.300 686 $a C18.452.648.595.554.825.300.300 750 $a Gangliosidoses, GM2 $8 eng 801 -0
$a US $b DNLM $c 19991108 801 -2
$a SK $b BA006 $c 20070222 980 $x M
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