Počet záznamov: 1
poruchy močovinového cyklu, vrodené
SYS d056806 LBL 00000nx--j2200000---45-- 005 20240119200626.7 100 $a 20100101asloy0103----ba0 152 $b mesh 250 $a poruchy močovinového cyklu, vrodené $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 2010 $8 eng 300 1-
$a Urea/metabolism (1977-2009) $8 eng 330 1-
$a Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA. $8 eng 450 $a Inborn Urea Cycle Disorder $5 e $8 eng 450 $a Urea Cycle Disorders $5 e $8 eng 450 $a poruchy cyklu kyseliny močovej, vrodené $5 e $8 slo 450 $a poruchy močovinového cyklu $5 e $8 slo 450 $a porucha močovinového cyklu, vrodená $5 e $8 slo 686 $a C10.228.140.163.100.937 686 $a C16.320.565.100.940 686 $a C16.320.565.189.937 686 $a C18.452.132.100.937 686 $a C18.452.648.100.940 686 $a C18.452.648.189.937 750 $a Urea Cycle Disorders, Inborn $8 eng 801 -0
$a SK $b BA006 $c 20100316 801 -0
$a SK $b BA006 $c 20101111 980 $x M
Počet záznamov: 1