Počet záznamov: 1
porfýrie
SYS d011164 LBL 00000cx--j22000003--45-- 005 20240119201135.8 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $a porfýrie $x BL $x CF $x CI $x CL $x CN $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 (1963) $8 eng 330 1-
$a A diverse group of metabolic diseases characterized by errors in the biosynthetic pathway of HEME in the LIVER, the BONE MARROW, or both. They are classified by the deficiency of specific enzymes, the tissue site of enzyme defect, or the clinical features that include neurological (acute) or cutaneous (skin lesions). Porphyrias can be hereditary or acquired as a result of toxicity to the hepatic or erythropoietic marrow tissues. $8 eng 550 $3 sllk_un_auth*d011163 $Y Hydroxymethylbilane Synthase $5 B $a hydroxymetylbilánsyntáza 550 $3 sllk_un_auth*d011163 $Y Hydroxymethylbilane Synthase $5 F $a hydroxymetylbilánsyntáza 550 $3 sllk_un_auth*d000623 $Y Porphobilinogen Synthase $5 F $a porfobilinogénsyntáza 686 $a C18.452.811 750 $a Porphyrias $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20050304 820 $a general or unspecified: prefer specifics $8 eng 980 $x M
Počet záznamov: 1