Number of the records: 1  

porphyria variegata

  1. SYSd046350
    LBL
      
    00000cx--j2200000---45--
    005
      
    20240119200459.4
    100
      
    $a 20040715asloy0103----ba0
    152
      
    $b mesh
    250
      
    $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 $8 slo
    300
    1-
    $a 2005; use PORPHYRIA, HEPATIC 1993-2004 $8 eng
    300
    1-
    $a Porphyria (1964-2004) $8 eng
    300
    1-
    $a Porphyria, Hepatic (1993-2004) $8 eng
    330
    1-
    $a 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. $8 eng
    450
      
    $a Porphyria, South African Type $5 e $8 eng
    450
      
    $a porfýria, juhoafrický typ $5 e $8 slo
    450
      
    $a deficit protoporfyrinogén oxidázy $5 e $8 slo
    450
      
    $a deficit Ppox $5 e $8 slo
    686
      
    $a C06.552.830.625
    686
      
    $a C16.320.850.742.625
    686
      
    $a C17.800.827.742.625
    686
      
    $a C18.452.811.400.625
    750
      
    $a Porphyria, Variegate $8 eng
    801
    -0
    $a US $b DNLM $c 20040715
    801
    -2
    $a SK $b BA006 $c 20050307
    801
    -2
    $a SK $b BA006 $c 20210902
    980
      
    $x M
Number of the records: 1  

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