Počet záznamov: 1
deficit lecitín-cholesterol acyltransferázy
SYS d007863 LBL 00000cx--j2200000---45-- 005 20240119195750.0 100 $a 19920429asloy0103----ba0 152 $b mesh 250 $a deficit lecitín-cholesterol acyltransferázy $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 2017(1978); use LECITHIN ACYLTRANSFERASE DEFICIENCY 1991-2016; HYPOLIPOPROTEINEMIA 1980-1990; HYPOLIPOPROTEINEMIAS 1978-1979 $8 eng 300 1-
$a Acyltransferases (1966-1977) $8 eng 300 1-
$a Lecithin Acyltransferase/DF (1975-1977) $8 eng 300 1-
$a Lipid Metabolism, Inborn Errors (1966-1977) $8 eng 300 1-
$a Lipoproteins (1966-1977) $8 eng 330 1-
$a An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure. $8 eng 450 $a dystrofia rohovky dyslipoproteinemická $5 e $8 slo 450 $a choroba rybieho oka $5 e $8 slo 450 $a deficit LCAT $5 e $8 slo 450 $a nedostatok LCATA $5 e $8 slo 450 $a deficit alfa-lecitín:cholesterol acyltransferázy $5 e $8 slo 450 $a Norumova choroba $5 e $8 slo 686 $a C16.320.565.398.500.330.500 686 $a C18.452.584.500.875.330.500 686 $a C18.452.584.563.500.330.500 686 $a C18.452.648.398.500.330.500 750 $a Lecithin Cholesterol Acyltransferase Deficiency $8 eng 801 -0
$a US $b DNLM $c 19920429 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20180301 980 $x M
Počet záznamov: 1