Počet záznamov: 1
choroba z deficitu karbamoylfosfát syntázy I
SYS d020165 LBL 00000cx--j2200000---45-- 005 20240119201349.0 100 $a 19991105asloy0103----ba0 152 $b mesh 250 $a choroba z deficitu karbamoylfosfát syntázy I $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 Amino Acid Metabolism, Inborn Errors (1975-1999) $8 eng 300 1-
$a Carbamoyl-Phosphate Synthase (Ammonia)/deficiency (1989-1999) $8 eng 300 1-
$a Metabolism, Inborn Errors (1970-1974) $8 eng 330 1-
$a A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1) $8 eng 450 $a CPS 1 Deficiency $5 e $8 eng 450 $a Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency) $5 e $8 eng 450 $a Carbamyl-Phosphate Synthetase I Deficiency Disease $5 e $8 eng 450 $a Hyperammonemia Due to Carbamoyl Phosphate Synthetase 1 Deficiency $5 e $8 eng 450 $a deficit CPS 1 $5 e $8 slo 450 $a choroba z nedostatku karbamylfosfátsyntetázy I $5 e $8 slo 450 $a choroba z deficitu karbamoylfosfátsyntetázy I $5 e $8 slo 450 $a deficit karbamoyl-fosfát syntetázy (CPS) $5 e $8 slo 450 $a choroba z deficitu karbamoylfosfát syntetázy I (deficit ornitín karbamoylfosfátu) $5 e $8 slo 450 $a hyperamonémia spôsobená deficitom karbamoyl-fosfát syntázy I $5 e $8 slo 450 $a hyperamoniémia spôsobená deficitom karbamoyl-fosfát syntázy I $5 e $8 slo 550 $3 sllk_un_auth*d002222 $Y Carbamoyl-Phosphate Synthase (Ammonia) $5 B $a karbamoylfosfát syntáza (amoniak) 550 $3 sllk_un_auth*d002222 $Y Carbamoyl-Phosphate Synthase (Ammonia) $5 F $a karbamoylfosfát syntáza (amoniak) 686 $a C10.228.140.163.100.937.249 686 $a C16.320.565.100.940.249 686 $a C16.320.565.189.937.249 686 $a C18.452.132.100.937.249 686 $a C18.452.648.100.940.249 686 $a C18.452.648.189.937.249 686 $a C18.452.660.097 750 $a Carbamoyl-Phosphate Synthase I Deficiency Disease $8 eng 801 -0
$a US $b DNLM $c 19991105 801 -2
$a SK $b BA006 $c 20020607 801 -2
$a SK $b BA006 $c 20101221 801 -2
$a SK $b BA006 $c 20180328 801 -2
$a SK $b BA006 $c 20200128 801 -2
$a SK $b BA006 $c 20200424 820 $a consider also CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA)/defic $8 eng 980 $x M
Počet záznamov: 1