Number of the records: 1
choroba tangierska
SYS d013631 LBL 00000cz--a2200000o--4500 005 20250606214705.2 008 920429|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.668.829.800.875 065 $a C16.320.565.398.500.330.750 065 $a C18.452.584.500.875.330.750 065 $a C18.452.584.563.500.330.750 065 $a C18.452.648.398.500.330.750 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a A-alphalipoprotein Neuropathy $2 eng 450 $w v $a Analphalipoproteinemia $2 eng 450 $w v $a Tangier Disease Neuropathy $2 eng 450 $w v $a neuropatia A-alfalipoproteínová $2 slo 450 $w v $a analfalipoproteinémia $2 slo 450 $w v $a neuropatia pri tangierskej chorobe $2 slo 550 $7 sllk_us_auth*d008075 $Y Lipoproteins, HDL $w b $a lipoproteíny, HDL 550 $7 sllk_us_auth*d012174 $Y Retinitis Pigmentosa $w b $a retinitis pigmentosa 550 $7 sllk_us_auth*d008075 $Y Lipoproteins, HDL $w p $a lipoproteíny, HDL 550 $7 sllk_us_auth*d012174 $Y Retinitis Pigmentosa $w p $a retinitis pigmentosa 550 $7 sllk_us_auth*d064286 $Y ATP Binding Cassette Transporter 1 $w b $a ATP-viažuci kazetový transportér 1 665 $a 1991(1978) $2 eng 665 $a Blood Protein Disorders (1966-1977) $2 eng 665 $a Lipid Metabolism, Inborn Errors (1966-1977) $2 eng 665 $a Lipoproteins (1966-1977) $2 eng 665 $a Lipoproteins, HDL (1972-1977) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Tangier Disease $2 eng 980 $x M
Number of the records: 1