Počet záznamov: 1
aspartylglukozaminúria
SYS d054880 LBL 00000nx--j2200000---45-- 005 20240119200608.6 100 $a 20080101asloy0103----ba0 152 $b mesh 250 $a aspartylglukozaminúria $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 2009 $8 eng 300 1-
$a Aspartylglucosylaminase (1975-2008) $8 eng 330 1-
$a A recessively inherited, progressive lysosomal storage disease caused by a deficiency of GLYCOSYLASPARAGINASE activity. The lack of this enzyme activity results in the accumulation of N-acetylglucosaminylasparagine (the linkage unit of asparagine-linked glycoproteins) in LYSOSOMES. $8 eng 450 $a aspartylglykozaminúria $5 e $8 slo 686 $a C16.320.565.595.100 686 $a C18.452.648.595.100 750 $a Aspartylglucosaminuria $8 eng 801 -0
$a SK $b BA006 $c 20081218 980 $x M
Počet záznamov: 1