Number of the records: 1
Sandhoffova choroba
SYS d012497 LBL 00000cx--j2200000---45-- 005 20240119201457.0 100 $a 19920522asloy0103----ba0 152 $b mesh 250 $a Sandhoffova 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 $8 slo 300 1-
$a 1979 $8 eng 300 1-
$a G(M2) Ganglioside (1975-1978) $8 eng 300 1-
$a Gangliosides (1966-1978) $8 eng 300 1-
$a Gangliosidosis (1976-1978) $8 eng 300 1-
$a Hexosaminidases (1971-1978) $8 eng 300 1-
$a Lipoidosis (1966-1978) $8 eng 300 1-
$a Sphingolipidosis (1974-1978) $8 eng 330 1-
$a An autosomal recessive neurodegenerative disorder characterized by an accumulation of G(M2) GANGLIOSIDE in neurons and other tissues. It is caused by mutation in the common beta subunit of HEXOSAMINIDASE A and HEXOSAMINIDASE B. Thus this disease is also known as the O variant since both hexosaminidase A and B are missing. Clinically, it is indistinguishable from TAY-SACHS DISEASE. $8 eng 450 $a G(M2) Gangliosidosis, Type II $5 e $8 eng 450 $a Gangliosidosis G(M2), Type II $5 e $8 eng 450 $a Hexosaminidase A and B Deficiency Disease $5 e $8 eng 450 $a Sandhoffova choroba u dospelých $5 e $8 slo 450 $a Sandhoffova choroba v dospelosti $5 e $8 slo 450 $a Sandhoffov syndróm $5 e $8 slo 450 $a gangliozidóza G(M2), typ II $5 e $8 slo 450 $a gangliozidóza GM2, typ II $5 e $8 slo 450 $a gangliozidóza GM2, typ 2 $5 e $8 slo 450 $a deficiencia hexozaminidáz A a B $5 e $8 slo 450 $a choroba z deficiencie hexozaminidázy A a B $5 e $8 slo 450 $a choroba z deficitu hexozaminidázy A a B $5 e $8 slo 450 $a choroba z nedostatku hexozaminidázy A a B $5 e $8 slo 450 $a Sandhoffova choroba u detí $5 e $8 slo 450 $a Sandhoffova choroba v detstve $5 e $8 slo 450 $a Sandhoffova choroba, infantilná forma $5 e $8 slo 450 $a Sandhoffova choroba, juvenilná forma $5 e $8 slo 450 $a Sandhoffova choroba, adultná forma $5 e $8 slo 450 $a Sandhoffova-Jatzkewitzova-Pilzova choroba $5 e $8 slo 450 $a deficiencia hexozaminidázy, totálna $5 e $8 slo 450 $a deficit hexaminidázy, totálny $5 e $8 slo 450 $a deficiencia beta-podjednotky beta-hexozaminidázy $5 e $8 slo 450 $a deficiencia beta-subjednotky beta-hexozaminidázy $5 e $8 slo 550 $3 sllk_un_auth*d001619 $Y beta-N-Acetylhexosaminidases $5 B $a beta-N-acetylhexozaminidázy 550 $3 sllk_un_auth*d005678 $Y G(M2) Ganglioside $5 B $a G(M2) gangliozid 550 $3 sllk_un_auth*d001619 $Y beta-N-Acetylhexosaminidases $5 F $a beta-N-acetylhexozaminidázy 550 $3 sllk_un_auth*d054818 $Y Hexosaminidase A $5 B $a hexózaminidáza A 686 $a C10.228.140.163.100.435.825.300.300.249 686 $a C16.320.565.189.435.825.300.300.249 686 $a C16.320.565.398.641.803.350.300.700 686 $a C16.320.565.595.554.825.300.300.800 686 $a C18.452.132.100.435.825.300.300.249 686 $a C18.452.584.563.641.803.350.300.700 686 $a C18.452.648.189.435.825.300.300.249 686 $a C18.452.648.398.641.803.350.300.700 686 $a C18.452.648.595.554.825.300.300.800 750 $a Sandhoff Disease $8 eng 801 -0
$a US $b DNLM $c 19920522 801 -2
$a SK $b BA006 $c 20010521 801 -2
$a SK $b BA006 $c 20231106 980 $x M
Number of the records: 1