Number of the records: 1  

alkaptonúria

  1. SYSd000474
    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  

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