Počet záznamov: 1
hypoxantínfosforibozyltransferáza
SYS d007041 LBL 00000cx--j22000003--45-- 005 20240119201040.6 100 $a 19921111csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 75; GUANINE PHOSPHORIBOSYLTRANSFERASE was GUANINE PHOSPHORIBOSYLTRANSFERASE (NM) 1978-91 $8 eng 300 1-
$a Pentosephosphates (1972-1974) $8 eng 300 1-
$a Pentosyltransferases (1972-1974) $8 eng 330 1-
$a 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. $8 eng 450 $a Guanine Phosphoribosyltransferase $5 e $8 eng 450 $a HPRT $5 e $8 eng 450 $a Hypoxanthine-Guanine Phosphoribosyltransferase $5 e $8 eng 450 $a IMP Pyrophosphorylase $5 e $8 eng 450 $a HPRT $5 e $8 slo 450 $a guanínfosforibozyltransferáza $5 e $8 slo 450 $a hypoxantínguanínfosforibozyltransferáza $5 e $8 slo 450 $a IMP-pyrofosforyláza $5 e $8 slo 550 $3 sllk_un_auth*d006073 $Y Gout $5 B $a dna (choroba) 550 $3 sllk_un_auth*d006073 $Y Gout $5 F $a dna (choroba) 550 $3 sllk_un_auth*d007926 $Y Lesch-Nyhan Syndrome $5 F $a Leschov-Nyhanov syndróm 550 $3 sllk_un_auth*d007926 $Y Lesch-Nyhan Syndrome $5 B $a Leschov-Nyhanov syndróm 686 $a D08.811.913.400.725.450 750 $a Hypoxanthine Phosphoribosyltransferase $8 eng 801 -0
$a US $b DNLM $c 19921111 801 -2
$a SK $b BA006 $c 20010706 820 $a /defic: consider also LESCH-NYHAN SYNDROME or GOUT $8 eng 980 $x M
Počet záznamov: 1