Počet záznamov: 1
Wolmanova choroba
SYS d015223 LBL 00000cx--j2200000---45-- 005 20240119200105.9 100 $a 19920512asloy0103----ba0 152 $b mesh 250 $a Wolmanova 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 1989 $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 300 1-
$a Xanthomatosis (1966-1988) $8 eng 330 1-
$a The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE. $8 eng 450 $a Acid Cholesteryl Ester Hydrolase Deficiency, Type 2 $5 e $8 eng 450 $a Acid Cholesteryl Ester Hydrolase Deficiency, Wolman Type $5 e $8 eng 450 $a Acid Lipase Disease $5 e $8 eng 450 $a LIPA Deficiency $5 e $8 eng 450 $a Lysosomal Acid Lipase Deficiency $5 e $8 eng 450 $a Xanthomatosis, Familial $5 e $8 eng 450 $a Xanthomatosis, Wolman's $5 e $8 eng 450 $a xantomatóza familiárna $5 e $8 slo 450 $a Wolmanova xantomatóza $5 e $8 slo 450 $a deficit kyslej cholesterol ester hydrolázy, Wolmanov typ $5 e $8 slo 450 $a deficit kyslej lyzozómovej lipázy $5 e $8 slo 686 $a C16.320.565.398.641.201.500 686 $a C16.320.565.595.201.500 686 $a C16.614.947 686 $a C18.452.584.563.641.201.500 686 $a C18.452.648.398.641.201.500 686 $a C18.452.648.595.201.500 750 $a Wolman Disease $8 eng 801 -0
$a US $b DNLM $c 19920512 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20110111 801 -2
$a SK $b BA006 $c 20180529 980 $x M
Počet záznamov: 1