Počet záznamov: 1
choroba z deficitu ornitíntranskarbamoylázy
SYS d020163 LBL 00000cx--j2200000---45-- 005 20240119201348.9 100 $a 19991103asloy0103----ba0 152 $b mesh 250 $a choroba z deficitu ornitíntranskarbamoylázy $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 $8 eng 300 1-
$a Ornithine Carbamoyltransferase/deficiency (1966-1999) $8 eng 330 1-
$a An inherited urea cycle disorder associated with deficiency of the enzyme ORNITHINE CARBAMOYLTRANSFERASE, transmitted as an X-linked trait and featuring elevations of amino acids and ammonia in the serum. Clinical features, which are more prominent in males, include seizures, behavioral alterations, episodic vomiting, lethargy, and coma. (Menkes, Textbook of Child Neurology, 5th ed, pp49-50) $8 eng 450 $a OTC Deficiency $5 e $8 eng 450 $a Ornithine Transcarbamylase Deficiency $5 e $8 eng 450 $a Ornithine Transcarbamylase Deficiency Disease $5 e $8 eng 450 $a choroba z nedostatku ornitíntranskarbamoylázy $5 e $8 slo 450 $a choroba z deficitu ornitínkarbamoyltransferázy $5 e $8 slo 450 $a deficit OTC $5 e $8 slo 450 $a deficit ornitíntranskarbamoylázy $5 e $8 slo 450 $a choroba z deficitu ornitíntranskarbamylázy $5 e $8 slo 450 $a deficit ornitíntranskarbamylázy $5 e $8 slo 550 $3 sllk_un_auth*d009954 $Y Ornithine Carbamoyltransferase $5 B $a ornitíntranskarbamoyláza 550 $3 sllk_un_auth*d009954 $Y Ornithine Carbamoyltransferase $5 F $a ornitíntranskarbamoyláza 686 $a C10.228.140.163.100.937.750 686 $a C16.320.322.828 686 $a C16.320.565.100.940.750 686 $a C16.320.565.189.937.750 686 $a C18.452.132.100.937.500 686 $a C18.452.648.100.940.500 686 $a C18.452.648.189.937.500 750 $a Ornithine Carbamoyltransferase Deficiency Disease $8 eng 801 -0
$a US $b DNLM $c 19991103 801 -2
$a SK $b BA006 $c 20001120 801 -2
$a SK $b BA006 $c 20101221 801 -0
$a SK $b BA006 $c 20110606 980 $x M
Počet záznamov: 1