Number of the records: 1
alkaptonúria
SYS d000474 LBL 00000cx--j2200000---45-- 005 20240119201443.3 100 $a 19990101asloy0103----ba0 152 $b mesh 250 $a alkaptonúria $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 330 1-
$a An inborn error of amino acid metabolism resulting from a defect in the enzyme HOMOGENTISATE 1,2-DIOXYGENASE, an enzyme involved in the breakdown of PHENYLALANINE and TYROSINE. It is characterized by accumulation of HOMOGENTISIC ACID in the urine, OCHRONOSIS in various tissues, and ARTHRITIS. $8 eng 450 $a choroba čiernych kostí $5 e $8 slo 450 $a defekt oxidázy kyseliny homogentisovej $5 e $8 slo 450 $a deficit oxidázy kyseliny homogentisovej $5 e $8 slo 450 $a nedostatok oxidázy kyseliny homogentisovej $5 e $8 slo 450 $a acidúria kyseliny homogentisovej $5 e $8 slo 450 $a homogentisúria $5 e $8 slo 450 $a acidúria homogentisová $5 e $8 slo 550 $3 sllk_un_auth*d050560 $Y Homogentisate 1,2-Dioxygenase $5 F $a homogentizát 1,2-dioxygenáza 550 $3 sllk_un_auth*d014556 $Y Urine $5 B $a moč 550 $3 sllk_un_auth*d050560 $Y Homogentisate 1,2-Dioxygenase $5 B $a homogentizát 1,2-dioxygenáza 686 $a C16.320.565.100.187 686 $a C18.452.648.100.187 750 $a Alkaptonuria $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070706 801 -2
$a SK $b BA006 $c 20190430 801 -2
$a SK $b BA006 $c 20210831 801 -2
$a SK $b BA006 $c 20220718 980 $x M
Number of the records: 1