Počet záznamov: 1
choroba z ukladania esterov cholesterolu
SYS d015217 LBL 00000cx--j2200000---45-- 005 20240119201240.4 100 $a 19920511asloy0103----ba0 152 $b mesh 250 $a choroba z ukladania esterov cholesterolu $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 89 $8 eng 300 1-
$a Cholesterol Esters (1978-1988) $8 eng 300 1-
$a Lipase (1966-1988) $8 eng 300 1-
$a Lipid Metabolism, Inborn Errors (1966-1988) $8 eng 300 1-
$a Lipoidosis (1966-1988) $8 eng 330 1-
$a An autosomal recessive disorder caused by mutations in the gene for acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. $8 eng 450 $a choroba z hromadenia esterov cholesterolu $5 e $8 slo 550 $3 sllk_un_auth*d002787 $Y Sterol Esterase $5 B $a sterolesteráza 550 $3 sllk_un_auth*d002787 $Y Sterol Esterase $5 F $a sterolesteráza 686 $a C16.320.565.398.641.201 686 $a C16.320.565.595.201 686 $a C18.452.584.563.641.201 686 $a C18.452.648.398.641.201 686 $a C18.452.648.595.201 750 $a Cholesterol Ester Storage Disease $8 eng 801 -0
$a US $b DNLM $c 19920511 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20200312 801 -2
$a SK $b BA006 $c 20200805 980 $x M
Počet záznamov: 1