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Leschov-Nyhanov syndróm
SYS d007926 LBL 00000cz--a2200000o--4500 005 20250606214829.6 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.163.100.425 065 $a C10.597.606.360.455.625 065 $a C16.320.322.500.625 065 $a C16.320.400.525.625 065 $a C16.320.565.189.425 065 $a C16.320.565.798.594 065 $a C18.452.132.100.425 065 $a C18.452.648.189.425 065 $a C18.452.648.798.594 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Choreoathetosis Self-Mutilation Hyperuricemia Syndrome $2 eng 450 $w v $a Hypoxanthine-Phosphoribosyl-Transferase Deficiency Disease $2 eng 450 $w v $a syndróm choreoatetózy, sebazmrzačenia a hyperurikémie $2 slo 450 $w v $a choroba z deficitu hypoxantínfosforibozyltransferázy $2 slo 550 $7 sllk_us_auth*d007041 $Y Hypoxanthine Phosphoribosyltransferase $w b $a hypoxantínfosforibozyltransferáza 550 $7 sllk_us_auth*d007041 $Y Hypoxanthine Phosphoribosyltransferase $w p $a hypoxantínfosforibozyltransferáza 665 $a 1973(1971) $2 eng 665 $a Athetosis (1966-1970) $2 eng 665 $a Mental Retardation (1966-1970) $2 eng 665 $a Purine-Pyrimidine Metabolism, Inborn Errors (1966-1970) $2 eng 665 $a Self Mutilation (1966-1970) $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Lesch-Nyhan Syndrome $2 eng 980 $x M
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