Number of the records: 1
xantomatóza cerebrotendinózna
SYS d019294 LBL 00000nx--j22000003--45-- 005 20240119201451.5 100 $a 19960610csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 97 $8 eng 300 1-
$a Xanthomatosis (1968-1996) $8 eng 330 1-
$a 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. $8 eng 450 $a Van Bogaert-Scherer-Epstein Disease $5 e $8 eng 450 $a van Bogaertov-Schererov-Epsteinov syndróm $5 e $8 slo 450 $a cholesterinosis cerebrotendinosa $5 e $8 slo 450 $a xanthomatosis normolipaemica $5 e $8 slo 450 $a CTX $5 e $8 slo 450 $a van Bogaertova-Schererova-Epsteinova choroba $5 e $8 slo 550 $3 sllk_un_auth*d053493 $Y Cholestanetriol 26-Monooxygenase $5 B $a cholestántriol 26-monooxygenáza 686 $a C16.320.565.398.925 686 $a C18.452.584.563.925 686 $a C18.452.584.750.975 686 $a C18.452.648.398.925 750 $a Xanthomatosis, Cerebrotendinous $8 eng 801 -0
$a US $b DNLM $c 19960610 801 -2
$a SK $b BA006 $c 20000613 980 $x M
Number of the records: 1