Počet záznamov: 1
Sandhoffova choroba
SYS d012497 LBL 00000cz--a2200000n--4500 005 20250606213659.8 008 920522|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C10.228.140.163.100.435.825.300.300.249 065 $a C16.320.565.189.435.825.300.300.249 065 $a C16.320.565.398.641.803.350.300.700 065 $a C16.320.565.595.554.825.300.300.800 065 $a C18.452.132.100.435.825.300.300.249 065 $a C18.452.584.563.641.803.350.300.700 065 $a C18.452.648.189.435.825.300.300.249 065 $a C18.452.648.398.641.803.350.300.700 065 $a C18.452.648.595.554.825.300.300.800 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Gangliosidosis G(M2), Type II $2 eng 450 $w v $a G(M2) Gangliosidosis, Type II $2 eng 450 $w v $a Hexosaminidase A and B Deficiency Disease $2 eng 450 $w v $a Sandhoffova choroba u dospelých $2 slo 450 $w v $a Sandhoffova choroba v dospelosti $2 slo 450 $w v $a Sandhoffov syndróm $2 slo 450 $w v $a gangliozidóza G(M2), typ II $2 slo 450 $w v $a gangliozidóza GM2, typ II $2 slo 450 $w v $a gangliozidóza GM2, typ 2 $2 slo 450 $w v $a deficiencia hexozaminidáz A a B $2 slo 450 $w v $a choroba z deficiencie hexozaminidázy A a B $2 slo 450 $w v $a choroba z deficitu hexozaminidázy A a B $2 slo 450 $w v $a choroba z nedostatku hexozaminidázy A a B $2 slo 450 $w v $a Sandhoffova choroba u detí $2 slo 450 $w v $a Sandhoffova choroba v detstve $2 slo 450 $w v $a Sandhoffova choroba, infantilná forma $2 slo 450 $w v $a Sandhoffova choroba, juvenilná forma $2 slo 450 $w v $a Sandhoffova choroba, adultná forma $2 slo 450 $w v $a Sandhoffova-Jatzkewitzova-Pilzova choroba $2 slo 450 $w v $a deficiencia hexozaminidázy, totálna $2 slo 450 $w v $a deficit hexaminidázy, totálny $2 slo 450 $w v $a deficiencia beta-podjednotky beta-hexozaminidázy $2 slo 450 $w v $a deficiencia beta-subjednotky beta-hexozaminidázy $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 $2 eng 665 $a Gangliosides (1966-1978) $2 eng 665 $a Gangliosidosis (1976-1978) $2 eng 665 $a G(M2) Ganglioside (1975-1978) $2 eng 665 $a Hexosaminidases (1971-1978) $2 eng 665 $a Lipoidosis (1966-1978) $2 eng 665 $a Sphingolipidosis (1974-1978) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Sandhoff Disease $2 eng 980 $x M
Počet záznamov: 1