Number of the records: 1
choroba tangierska
SYS d013631 LBL 00000cx--j22000003--45-- 005 20240119201529.0 100 $a 19920429csloy0103----ba0 152 $b mesh 250 $a choroba tangierska $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 1991(1978) $8 eng 300 1-
$a Blood Protein Disorders (1966-1977) $8 eng 300 1-
$a Lipid Metabolism, Inborn Errors (1966-1977) $8 eng 300 1-
$a Lipoproteins (1966-1977) $8 eng 300 1-
$a Lipoproteins, HDL (1972-1977) $8 eng 330 1-
$a An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD. $8 eng 450 $a A-alphalipoprotein Neuropathy $5 e $8 eng 450 $a Analphalipoproteinemia $5 e $8 eng 450 $a Tangier Disease Neuropathy $5 e $8 eng 450 $a neuropatia A-alfalipoproteínová $5 e $8 slo 450 $a analfalipoproteinémia $5 e $8 slo 450 $a neuropatia pri tangierskej chorobe $5 e $8 slo 550 $3 sllk_un_auth*d008075 $Y Lipoproteins, HDL $5 B $a lipoproteíny, HDL 550 $3 sllk_un_auth*d012174 $Y Retinitis Pigmentosa $5 B $a retinitis pigmentosa 550 $3 sllk_un_auth*d008075 $Y Lipoproteins, HDL $5 F $a lipoproteíny, HDL 550 $3 sllk_un_auth*d012174 $Y Retinitis Pigmentosa $5 F $a retinitis pigmentosa 550 $3 sllk_un_auth*d064286 $Y ATP Binding Cassette Transporter 1 $5 B $a ATP-viažuci kazetový transportér 1 686 $a C10.668.829.800.875 686 $a C16.320.565.398.500.330.750 686 $a C18.452.584.500.875.330.750 686 $a C18.452.584.563.500.330.750 686 $a C18.452.648.398.500.330.750 750 $a Tangier Disease $8 eng 801 -0
$a US $b DNLM $c 19920429 801 -2
$a SK $b BA006 $c 20070131 980 $x M
Number of the records: 1