Počet záznamov: 1
protoporfýria erytropoetická
SYS d046351 LBL 00000nx--j22000003--45-- 005 20240119201436.1 100 $a 20040715csloy0103----ba0 152 $b mesh 250 $a protoporfýria erytropoetická $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 2005; use PORPHYRIA, ERYTHROHEPATIC 1993-2004 $8 eng 300 1-
$a Porphyria (1965-2004) $8 eng 300 1-
$a Porphyria, Erythrohepatic (1993-2004) $8 eng 330 1-
$a An autosomal dominant porphyria that is due to a deficiency of FERROCHELATASE (heme synthetase) in both the LIVER and the BONE MARROW, the last enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include mainly neurological symptoms, rarely cutaneous lesions, and elevated levels of protoporphyrin and COPROPORPHYRINS in the feces. $8 eng 450 $a Erythropoietic Protoporphyria $5 e $8 eng 450 $a protoporphyria erythropoetica $5 e $8 slo 550 $3 sllk_un_auth*d005294 $Y Ferrochelatase $5 F $a ferochelatáza 686 $a C06.552.830.812 686 $a C16.320.850.742.812 686 $a C17.800.827.742.812 686 $a C18.452.811.400.812 750 $a Protoporphyria, Erythropoietic $8 eng 801 -0
$a US $b DNLM $c 20040715 801 -2
$a SK $b BA006 $c 20050307 820 $a do not confuse with PORPHYRIA, ERYTHROPOIETIC $8 eng 980 $x M
Počet záznamov: 1