Number of the records: 1
xantomatóza cerebrotendinózna
SYS d019294 LBL 00000nz--a2200000o--4500 005 20250606220354.2 008 960610|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C16.320.565.398.925 065 $a C18.452.584.563.925 065 $a C18.452.584.750.975 065 $a C18.452.648.398.925 066 $a 01 $c 03 150 $a xantomatóza cerebrotendinózna $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 Van Bogaert-Scherer-Epstein Disease $2 eng 450 $w v $a van Bogaertov-Schererov-Epsteinov syndróm $2 slo 450 $w v $a cholesterinosis cerebrotendinosa $2 slo 450 $w v $a xanthomatosis normolipaemica $2 slo 450 $w v $a CTX $2 slo 450 $w v $a van Bogaertova-Schererova-Epsteinova choroba $2 slo 550 $7 sllk_us_auth*d053493 $Y Cholestanetriol 26-Monooxygenase $w b $a cholestántriol 26-monooxygenáza 665 $a 97 $2 eng 665 $a Xanthomatosis (1968-1996) $2 eng 680 9-
$i An autosomal recessive lipid storage disorder due to mutation of the gene CYP27A1 encoding a CHOLESTANETRIOL 26-MONOOXYGENASE. It is characterized by large deposits of CHOLESTEROL and CHOLESTANOL in various tissues resulting in xanthomatous swelling of tendons, early CATARACT, and progressive neurological symptoms. $2 eng 750 -2
$a Xanthomatosis, Cerebrotendinous $2 eng 980 $x M
Number of the records: 1