Number of the records: 1
alkaptonúria
SYS d000474 LBL 00000cz--a2200000n--4500 005 20250606214027.7 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 $d BA006 $d BA006 065 $a C16.320.565.100.187 065 $a C18.452.648.100.187 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a choroba čiernych kostí $2 slo 450 $w v $a defekt oxidázy kyseliny homogentisovej $2 slo 450 $w v $a deficit oxidázy kyseliny homogentisovej $2 slo 450 $w v $a nedostatok oxidázy kyseliny homogentisovej $2 slo 450 $w v $a acidúria kyseliny homogentisovej $2 slo 450 $w v $a homogentisúria $2 slo 450 $w v $a acidúria homogentisová $2 slo 550 $7 sllk_us_auth*d050560 $Y Homogentisate 1,2-Dioxygenase $w p $a homogentizát 1,2-dioxygenáza 550 $7 sllk_us_auth*d014556 $Y Urine $w b $a moč 550 $7 sllk_us_auth*d050560 $Y Homogentisate 1,2-Dioxygenase $w b $a homogentizát 1,2-dioxygenáza 680 9-
$i 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. $2 eng 750 -2
$a Alkaptonuria $2 eng 980 $x M
Number of the records: 1