Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.

@article{Hift2004PlasmaFS,
  title={Plasma fluorescence scanning and fecal porphyrin analysis for the diagnosis of variegate porphyria: precise determination of sensitivity and specificity with detection of protoporphyrinogen oxidase mutations as a reference standard.},
  author={Richard J. Hift and Brandon P Davidson and Cornelis S van der Hooft and Doreen M. Meissner and Peter Mei\ssner},
  journal={Clinical chemistry},
  year={2004},
  volume={50 5},
  pages={915-23}
}
BACKGROUND Variegate porphyria (VP) is the autosomal dominant disorder associated with deficiency of the enzyme protoporphyrinogen oxidase (PPOX). Plasma fluorescence scanning has been reported to be a more sensitive test for VP than traditional fecal chromatography. Previous comparisons of these techniques predated identification of the PPOX gene. We assessed these techniques in a large group of patients characterized for VP at the DNA level. METHODS We evaluated all patients for whom the… CONTINUE READING
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