Plasma fluorescence scanning did not detect latent variegate porphyria in nine patients with non-p.R59W mutations

Pathology. 2005 Aug;37(4):324-6. doi: 10.1080/00313020500169602.
No abstract available

Publication types

  • Letter

MeSH terms

  • Adolescent
  • Adult
  • Chromatography, High Pressure Liquid
  • Female
  • Flavoproteins
  • Humans
  • Male
  • Mitochondrial Proteins
  • Mutation
  • Oxidoreductases Acting on CH-CH Group Donors / genetics
  • Pedigree
  • Polymerase Chain Reaction
  • Porphyria, Variegate / blood*
  • Porphyria, Variegate / diagnosis*
  • Porphyria, Variegate / genetics
  • Porphyrins / analysis
  • Protoporphyrinogen Oxidase
  • Sensitivity and Specificity
  • Spectrometry, Fluorescence* / methods

Substances

  • Flavoproteins
  • Mitochondrial Proteins
  • Porphyrins
  • Oxidoreductases Acting on CH-CH Group Donors
  • PPOX protein, human
  • Protoporphyrinogen Oxidase