Number of the records: 1  

hypoxantínfosforibozyltransferáza

  1. SYSd007041
    LBL
      
    00000cz--a2200000o--4500
    005
      
    20250606214319.3
    008
      
    921111|||anznnbabn-----------|-a|a------
    040
      
    $b slo $a DNLM $d BA006
    065
      
    $a D08.811.913.400.725.450
    066
      
    $a 01 $c 03
    150
      
    $a hypoxantínfosforibozyltransferáza $x AD $x AE $x AI $x AN $x BI $x BL $x CF $x CH $x CL $x CS $x DE $x DF $x EC $x GE $x HI $x IM $x IP $x ME $x PD $x PH $x PK $x PO $x RE $x SD $x ST $x TO $x TU $x UL $x UR $2 slo
    450
      
    $w v $a Guanine Phosphoribosyltransferase $2 eng
    450
      
    $w v $a HPRT $2 eng
    450
      
    $w v $a Hypoxanthine-Guanine Phosphoribosyltransferase $2 eng
    450
      
    $w v $a IMP Pyrophosphorylase $2 eng
    450
      
    $w v $a HPRT $2 slo
    450
      
    $w v $a guanínfosforibozyltransferáza $2 slo
    450
      
    $w v $a hypoxantínguanínfosforibozyltransferáza $2 slo
    450
      
    $w v $a IMP-pyrofosforyláza $2 slo
    550
      
    $7 sllk_us_auth*d006073 $Y Gout $w b $a dna (choroba)
    550
      
    $7 sllk_us_auth*d006073 $Y Gout $w p $a dna (choroba)
    550
      
    $7 sllk_us_auth*d007926 $Y Lesch-Nyhan Syndrome $w p $a Leschov-Nyhanov syndróm
    550
      
    $7 sllk_us_auth*d007926 $Y Lesch-Nyhan Syndrome $w b $a Leschov-Nyhanov syndróm
    665
      
    $a 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91 $2 eng
    665
      
    $a Pentosephosphates (1972-1974) $2 eng
    665
      
    $a Pentosyltransferases (1972-1974) $2 eng
    680
    9-
    $i An enzyme that catalyzes the conversion of 5-phosphoribosyl-1-pyrophosphate and hypoxanthine, guanine, or MERCAPTOPURINE to the corresponding 5'-mononucleotides and pyrophosphate. The enzyme is important in purine biosynthesis as well as central nervous system functions. Complete lack of enzyme activity is associated with the LESCH-NYHAN SYNDROME, while partial deficiency results in overproduction of uric acid. EC 2.4.2.8. $2 eng
    680
      
    $a /defic: consider also LESCH-NYHAN SYNDROME or GOUT $2 eng
    750
    -2
    $a Hypoxanthine Phosphoribosyltransferase $2 eng
    980
      
    $x M
Number of the records: 1  

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