Počet záznamov: 1
Tayova-Sachsova choroba, AB variant
SYS d049290 LBL 00000nx--j22000003--45-- 005 20240119201439.9 100 $a 20040707csloy0103----ba0 152 $b mesh 250 $a Tayova-Sachsova choroba, AB variant $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 2005(2000); use GANGLIOSIDOSES GM2 2000-2004 $8 eng 300 1-
$a Gangliosidoses (2000-2004) $8 eng 330 1-
$a A progressive neurodegenerative disorder that begins with muscle weakness, then progresses to startle reaction, retardation and seizures. It is characterized by the accumulation of G(M2) GANGLIOSIDE in neurons that is caused by a lack of G(M2) ACTIVATOR PROTEIN function. The AB variant designation refers to the increase of both HEXOSAMINIDASE A and HEXOSAMINIDASE B in tissues that lack of G(M2) activator protein. $8 eng 450 $a GM2 Protein Activator Deficiency Disease $5 e $8 eng 450 $a Gangliosidosis GM2, AB Variant $5 e $8 eng 450 $a Gangliosidosis GM2, Type AB $5 e $8 eng 450 $a Tayova-Sachsova choroba, AB forma $5 e $8 slo 450 $a choroba z deficitu aktivátora proteínu GM2 $5 e $8 slo 450 $a gangliozidóza GM2, AB variant $5 e $8 slo 450 $a gangliozidóza GM2, AB forma $5 e $8 slo 450 $a gangliozidóza GM2, typ AB $5 e $8 slo 450 $a gangliozidóza GM2 typu AB $5 e $8 slo 450 $a choroba z deficitu aktivátora proteínu GM2 $5 e $8 slo 550 $3 sllk_un_auth*d049289 $Y G(M2) Activator Protein $5 F $a proteín aktivátorový G(M2) 686 $a C10.228.140.163.100.435.825.300.300.750 686 $a C16.320.565.189.435.825.300.300.750 686 $a C16.320.565.398.641.803.350.300.925 686 $a C16.320.565.595.554.825.300.300.920 686 $a C18.452.132.100.435.825.300.300.750 686 $a C18.452.584.563.641.803.350.300.925 686 $a C18.452.648.189.435.825.300.300.750 686 $a C18.452.648.398.641.803.350.300.925 686 $a C18.452.648.595.554.825.300.300.920 750 $a Tay-Sachs Disease, AB Variant $8 eng 801 -0
$a US $b DNLM $c 20040707 801 -2
$a SK $b BA006 $c 20050420 980 $x M
Počet záznamov: 1