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Leschov-Nyhanov syndróm
SYS d007926 LBL 00000cx--j22000003--45-- 005 20240119201040.6 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a Leschov-Nyhanov syndróm $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 1973(1971) $8 eng 300 1-
$a Athetosis (1966-1970) $8 eng 300 1-
$a Mental Retardation (1966-1970) $8 eng 300 1-
$a Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970) $8 eng 300 1-
$a Self Mutilation (1966-1970) $8 eng 330 1-
$a An inherited disorder transmitted as a sex-linked trait and caused by a deficiency of an enzyme of purine metabolism; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE. Affected individuals are normal in the first year of life and then develop psychomotor retardation, extrapyramidal movement disorders, progressive spasticity, and seizures. Self-destructive behaviors such as biting of fingers and lips are seen frequently. Intellectual impairment may also occur but is typically not severe. Elevation of uric acid in the serum leads to the development of renal calculi and gouty arthritis. (Menkes, Textbook of Child Neurology, 5th ed, pp127) $8 eng 450 $a Choreoathetosis Self-Mutilation Hyperuricemia Syndrome $5 e $8 eng 450 $a Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease $5 e $8 eng 450 $a syndróm choreoatetózy, sebazmrzačenia a hyperurikémie $5 e $8 slo 450 $a choroba z deficitu hypoxantínfosforibozyltransferázy $5 e $8 slo 550 $3 sllk_un_auth*d007041 $Y Hypoxanthine Phosphoribosyltransferase $5 B $a hypoxantínfosforibozyltransferáza 550 $3 sllk_un_auth*d007041 $Y Hypoxanthine Phosphoribosyltransferase $5 F $a hypoxantínfosforibozyltransferáza 686 $a C10.228.140.163.100.425 686 $a C10.597.606.360.455.625 686 $a C16.320.322.500.625 686 $a C16.320.400.525.625 686 $a C16.320.565.189.425 686 $a C16.320.565.798.594 686 $a C18.452.132.100.425 686 $a C18.452.648.189.425 686 $a C18.452.648.798.594 750 $a Lesch-Nyhan Syndrome $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20010426 980 $x M
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