Počet záznamov: 1  

fenylketonúrie

  1. SYSd010661
    LBL
      
    00000nx--j22000003--45--
    005
      
    20240119201229.1
    100
      
    $a 19990101csloy0103----ba0
    152
      
    $b mesh
    250
      
    $a fenylketonúrie $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 2000(1974) $8 eng
    330
    1-
    $a A group of autosomal recessive disorders marked by a deficiency of the hepatic enzyme PHENYLALANINE HYDROXYLASE or less frequently by reduced activity of DIHYDROPTERIDINE REDUCTASE (i.e., atypical phenylketonuria). Classical phenylketonuria is caused by a severe deficiency of phenylalanine hydroxylase and presents in infancy with developmental delay; SEIZURES; skin HYPOPIGMENTATION; ECZEMA; and demyelination in the central nervous system. (From Adams et al., Principles of Neurology, 6th ed, p952). $8 eng
    450
      
    $a Biopterin Deficiency $5 e $8 eng
    450
      
    $a Dihydropteridine Reductase Deficiency Disease $5 e $8 eng
    450
      
    $a Hyperphenylalaninemia, Non-Phenylketonuric $5 e $8 eng
    450
      
    $a Phenylalanine Hydroxylase Deficiency Disease $5 e $8 eng
    450
      
    $a choroba z deficitu dihydropteridínreduktázy $5 e $8 slo
    450
      
    $a hyperfenylalaninémia nefenylketonurická $5 e $8 slo
    450
      
    $a choroba z deficitu fenylalanínhydroxylázy $5 e $8 slo
    550
      
    $3 sllk_un_auth*d010651 $Y Phenylalanine Hydroxylase $5 B $a fenylalanínhydroxyláza
    550
      
    $3 sllk_un_auth*d004093 $Y Dihydropteridine Reductase $5 F $a dihydropteridínreduktáza
    550
      
    $3 sllk_un_auth*d010651 $Y Phenylalanine Hydroxylase $5 F $a fenylalanínhydroxyláza
    550
      
    $3 sllk_un_auth*d014556 $Y Urine $5 B $a moč
    675
      
    $a 616-008.9-056.7
    675
      
    $a 547.586.2
    686
      
    $a C10.228.140.163.100.687
    686
      
    $a C16.320.565.100.766
    686
      
    $a C16.320.565.189.687
    686
      
    $a C18.452.132.100.687
    686
      
    $a C18.452.648.100.766
    686
      
    $a C18.452.648.189.687
    750
      
    $a Phenylketonurias $8 eng
    801
    -0
    $a US $b DNLM $c 19990101
    801
    -2
    $a SK $b BA006 $c 20001114
    980
      
    $x M
Počet záznamov: 1  

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