Počet záznamov: 1
porfýria intermitentná akútna
SYS d017118 LBL 00000cx--j2200000---45-- 005 20240119201308.9 100 $a 19920522asloy0103----ba0 152 $b mesh 250 $a porfýria intermitentná akútna $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 1993 $8 eng 300 1-
$a Porphyria (1966-1992) $8 eng 330 1-
$a An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine. $8 eng 450 $a Hydroxymethylbilane Synthase Deficiency $5 e $8 eng 450 $a Uroporphyrinogen Synthase Deficiency $5 e $8 eng 450 $a porfýria prechodná akútna $5 e $8 slo 450 $a porphyria acuta intermittens $5 e $8 slo 450 $a deficit hydroxymetylbilansyntázy $5 e $8 slo 450 $a deficit hydroxymetylbilan syntázy $5 e $8 slo 450 $a nedostatok hydroxymetylbilansyntázy $5 e $8 slo 450 $a deficit uroporfyrinogén syntázy $5 e $8 slo 450 $a deficit uroporfyrinogénsyntázy $5 e $8 slo 550 $3 sllk_un_auth*d011163 $Y Hydroxymethylbilane Synthase $5 F $a hydroxymetylbilánsyntáza 686 $a C06.552.830.150 686 $a C16.320.850.742.150 686 $a C17.800.827.742.150 686 $a C18.452.811.400.150 750 $a Porphyria, Acute Intermittent $8 eng 801 -0
$a US $b DNLM $c 19920522 801 -2
$a SK $b BA006 $c 20000530 801 -2
$a SK $b BA006 $c 20101213 980 $x M
Počet záznamov: 1