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porfýrie
SYS d011164 LBL 00000cz--a2200000o--4500 005 20250606213624.5 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C18.452.811 066 $a 01 $c 03 150 $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 $2 slo 550 $7 sllk_us_auth*d011163 $Y Hydroxymethylbilane Synthase $w b $a hydroxymetylbilánsyntáza 550 $7 sllk_us_auth*d000623 $Y Porphobilinogen Synthase $w p $a porfobilinogénsyntáza 550 $7 sllk_us_auth*d011163 $Y Hydroxymethylbilane Synthase $w p $a hydroxymetylbilánsyntáza 665 $a 2005 (1963) $2 eng 680 9-
$i 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. $2 eng 680 $a general or unspecified: prefer specifics $2 eng 750 -2
$a Porphyrias $2 eng 980 $x M
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