Počet záznamov: 1
abetalipoproteinémia
SYS d000012 LBL 00000cz--a2200000n--4500 005 20250606213150.4 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $a BA006 $d BA006 $d BA006 $d BA006 065 $a C16.320.565.398.500.440.500 065 $a C18.452.584.500.875.440.500 065 $a C18.452.584.563.500.440.500 065 $a C18.452.648.398.500.440.500 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Bassen-Kornzweig Syndrome $2 eng 450 $w v $a Microsomal Triglyceride Transfer Protein Deficiency $2 eng 450 $w v $a Bassenov-Kornzweigov syndróm $2 slo 450 $w v $a Bassenova-Kornzweigova choroba $2 slo 450 $w v $a choroba z deficitu mikrozomálneho proteínu prenášajúceho triglyceridy $2 slo 450 $w v $a deficit mikrozomálneho proteínu prenášajúceho triglyceridy $2 slo 450 $w v $a choroba z deficitu mikrozómového proteínu prenášajúceho triglyceridy $2 slo 450 $w v $a deficit mikrozomálneho triacylglyceroly transferujúceho proteínu $2 slo 450 $w v $a choroba z deficitu mikrozómového proteínu prenášajúceho triacylglyceroly $2 slo 450 $w v $a choroba z deficitu betalipoproteínu $2 slo 450 $w v $a choroba z nedostatku betalipoproteínov $2 slo 450 $w v $a akantocytóza $2 slo 550 $7 sllk_us_auth*d001055 $Y Apolipoproteins B $w b $a apolipoproteíny B 665 $a 1966(1964) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Abetalipoproteinemia $2 eng 980 $x M
Počet záznamov: 1