Počet záznamov: 1
abetalipoproteinémia
SYS d000012 LBL 00000cx--j2200000---45-- 005 20240119200841.4 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a abetalipoproteinémia $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 1966(1964) $8 eng 330 1-
$a An autosomal recessive disorder of lipid metabolism. It is caused by mutation of the microsomal triglyceride transfer protein that catalyzes the transport of lipids (TRIGLYCERIDES; CHOLESTEROL ESTERS; PHOSPHOLIPIDS) and is required in the secretion of BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include defective intestinal lipid absorption, very low serum cholesterol level, and near absent LDL. $8 eng 450 $a Bassen-Kornzweig Syndrome $5 e $8 eng 450 $a Microsomal Triglyceride Transfer Protein Deficiency $5 e $8 eng 450 $a Bassenov-Kornzweigov syndróm $5 e $8 slo 450 $a Bassenova-Kornzweigova choroba $5 e $8 slo 450 $a choroba z deficitu mikrozomálneho proteínu prenášajúceho triglyceridy $5 e $8 slo 450 $a deficit mikrozomálneho proteínu prenášajúceho triglyceridy $5 e $8 slo 450 $a choroba z deficitu mikrozómového proteínu prenášajúceho triglyceridy $5 e $8 slo 450 $a deficit mikrozomálneho triacylglyceroly transferujúceho proteínu $5 e $8 slo 450 $a choroba z deficitu mikrozómového proteínu prenášajúceho triacylglyceroly $5 e $8 slo 450 $a choroba z deficitu betalipoproteínu $5 e $8 slo 450 $a choroba z nedostatku betalipoproteínov $5 e $8 slo 450 $a akantocytóza $5 e $8 slo 550 $3 sllk_un_auth*d001055 $Y Apolipoproteins B $5 B $a apolipoproteíny B 686 $a C16.320.565.398.500.440.500 686 $a C18.452.584.500.875.440.500 686 $a C18.452.584.563.500.440.500 686 $a C18.452.648.398.500.440.500 750 $a Abetalipoproteinemia $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070223 801 -2
$a SK $b BA006 $c 20090916 801 -0
$a SK $b BA006 $c 20141006 801 -2
$a SK $b BA006 $c 20160323 801 -2
$a SK $b BA006 $c 20201207 801 -2
$a SK $b BA006 $c 20230127 980 $x M
Počet záznamov: 1