Počet záznamov: 1
poruchy močovinového cyklu, vrodené
SYS d056806 LBL 00000nz--a2200000n--4500 005 20250606214953.4 008 100101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $a BA006 065 $a C10.228.140.163.100.937 065 $a C16.320.565.100.940 065 $a C16.320.565.189.937 065 $a C18.452.132.100.937 065 $a C18.452.648.100.940 065 $a C18.452.648.189.937 066 $a 01 $c 03 150 $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 $2 slo 450 $w v $a Inborn Urea Cycle Disorder $2 eng 450 $w v $a Urea Cycle Disorders $2 eng 450 $w v $a poruchy cyklu kyseliny močovej, vrodené $2 slo 450 $w v $a poruchy močovinového cyklu $2 slo 450 $w v $a porucha močovinového cyklu, vrodená $2 slo 665 $a 2010 $2 eng 665 $a Urea/metabolism (1977-2009) $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Urea Cycle Disorders, Inborn $2 eng 980 $x M
Počet záznamov: 1