Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.

@article{Wahlin2011ErythropoieticPI,
  title={Erythropoietic protoporphyria in Sweden: demographic, clinical, biochemical and genetic characteristics.},
  author={Staffan Wahlin and Ylva Floderus and Per St{\aa}l and Pauline Harper},
  journal={Journal of internal medicine},
  year={2011},
  volume={269 3},
  pages={278-88}
}
OBJECTIVE To investigate the demographic, clinical, biochemical and genotypic features of patients with erythropoietic protoporphyria (EPP) in a Swedish cohort. DESIGN Cross-sectional questionnaire, biochemical and genetic study. SETTING Sweden. SUBJECTS Fifty-one Swedish individuals known in 2008 to have EPP confirmed by molecular diagnosis. There were no exclusion criteria; all patients were included in the demographic and genetic study. A total of 92% participants completed the… CONTINUE READING