Number of the records: 1
Tay-Sachsova choroba
SYS d013661 LBL 00000cz--a2200000n--4500 005 20250606213057.9 008 920522|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.435.825.300.300.500 065 $a C16.320.565.189.435.825.300.300.500 065 $a C16.320.565.398.641.803.350.300.850 065 $a C16.320.565.595.554.825.300.300.840 065 $a C18.452.132.100.435.825.300.300.500 065 $a C18.452.584.563.641.803.350.300.850 065 $a C18.452.648.189.435.825.300.300.500 065 $a C18.452.648.398.641.803.350.300.850 065 $a C18.452.648.595.554.825.300.300.840 066 $a 01 $c 03 150 $a Tay-Sachsova choroba $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 Gangliosidosis GM2, B Variant $2 eng 450 $w v $a Gangliosidosis G(M2), Type I $2 eng 450 $w v $a G(M2) Gangliosidosis, Type I $2 eng 450 $w v $a Hexosaminidase A Deficiency Disease $2 eng 450 $w v $a Tay-Sachs Disease, B Variant $2 eng 450 $w v $a idiocia amaurotická familiárna $2 slo 450 $w v $a gangliozidóza G(M2), typ I $2 slo 450 $w v $a gangliozidóza GM2, typ 1 $2 slo 450 $w v $a gangliozidóza GM2, variant B $2 slo 450 $w v $a GM2-gangliozidóza, variant B $2 slo 450 $w v $a choroba z deficitu hexozaminidázy A $2 slo 450 $w v $a choroba z deficiencie hexozaminidázy A $2 slo 450 $w v $a deficiencia HexA $2 slo 450 $w v $a deficit HexA $2 slo 450 $w v $a Tayova-Sachsova choroba, variant B $2 slo 450 $w v $a deficit hexozaminidázy A $2 slo 450 $w v $a deficiencia hexozaminidázy A $2 slo 450 $w v $a nedostatok hexozaminidázy A $2 slo 450 $w v $a deficit alfa-podjednotky hexozaminidázy $2 slo 450 $w v $a deficit alfa-subjednotky hexozaminidázy $2 slo 450 $w v $a deficiencia alfa-podjednotky hexozaminidázy $2 slo 450 $w v $a deficiencia alfa-subjednotky hexozaminidázy $2 slo 450 $w v $a Tay-Sachsova sfingolipidóza $2 slo 450 $w v $a Tay-Sachsova choroba, B-variant $2 slo 450 $w v $a Tayova-Sachsova choroba $2 slo 550 $7 sllk_us_auth*d001619 $Y beta-N-Acetylhexosaminidases $w b $a beta-N-acetylhexozaminidázy 550 $7 sllk_us_auth*d005678 $Y G(M2) Ganglioside $w b $a G(M2) gangliozid 550 $7 sllk_us_auth*d001619 $Y beta-N-Acetylhexosaminidases $w p $a beta-N-acetylhexozaminidázy 550 $7 sllk_us_auth*d054818 $Y Hexosaminidase A $w b $a hexózaminidáza A 665 $a 1979; for AMAUROTIC FAMILIAL IDIOCY use LIPOIDOSIS 1985-2006 $2 eng 665 $a Lipoidosis (1966-1978) $2 eng 680 9-
$i An autosomal recessive neurodegenerative disorder characterized by the onset in infancy of an exaggerated startle response, followed by paralysis, dementia, and blindness. It is caused by mutation in the alpha subunit of the HEXOSAMINIDASE A resulting in lipid-laden ganglion cells. It is also known as the B variant (with increased HEXOSAMINIDASE B but absence of hexosaminidase A) and is strongly associated with Ashkenazic Jewish ancestry. $2 eng 680 $a TAY-SACHS DISEASE, AB VARIANT is also available $2 eng 750 -2
$a Tay-Sachs Disease $2 eng 980 $x M
Number of the records: 1