Number of the records: 1
porphyria variegata
SYS d046350 LBL 00000cz--a2200000n--4500 005 20250606214931.3 008 040715|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 $d BA006 065 $a C06.552.830.625 065 $a C16.320.850.742.625 065 $a C17.800.827.742.625 065 $a C18.452.811.400.625 066 $a 01 $c 03 150 $a porphyria variegata $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 450 $w v $a Porphyria, South African Type $2 eng 450 $w v $a porfýria, juhoafrický typ $2 slo 450 $w v $a deficit protoporfyrinogén oxidázy $2 slo 450 $w v $a deficit Ppox $2 slo 665 $a 2005; use PORPHYRIA, HEPATIC 1993-2004 $2 eng 665 $a Porphyria (1964-2004) $2 eng 665 $a Porphyria, Hepatic (1993-2004) $2 eng 680 9-
$i An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen. $2 eng 750 -2
$a Porphyria, Variegate $2 eng 980 $x M
Number of the records: 1