Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria

@article{Parera2009NovelNM,
  title={Novel Null-Allele Mutations and Genotype-Phenotype Correlation in Argentinean Patients with Erythropoietic Protoporphyria},
  author={Victoria Estela Parera and Rita H. Koole and Gardi Minderman and A. Edixhoven and Mar{\'i}a Victoria Rossetti and Alcira Batlle and Felix Wilhelmus Marie De Rooij},
  journal={Molecular Medicine},
  year={2009},
  volume={15},
  pages={425-431}
}
Erythropoietic protoporphyria (EPP) is an inherited disorder of porphyrin metabolism in which decreased activity of ferrochelatase (FECH) leads to accumulation of protoporphyrin IX (PP IX) in red blood cells, plasma, liver, and bile, and increased PP IX excretion in feces. Clinically, EPP is characterized by photosensitivity that begins in early childhood and includes burning, swelling, itching, and painful erythema in sun-exposed areas. Chronic liver disease is an important complication in a… CONTINUE READING

Citations

Publications citing this paper.

References

Publications referenced by this paper.
SHOWING 1-10 OF 44 REFERENCES

Identification of a ferroche - latase mutation in a Chinese family with erythro - poietic porphyria . J . Hepatol

XF Kong
  • 2008

Identification of a ferrochelatase mutation in a Chinese family with erythropoietic porphyria

XF Kong
  • J. Hepatol. 48:375–9
  • 2008
VIEW 2 EXCERPTS

Molecular characterization of erythropoi - etic protoporphyria in South Africa . Br . J . Derma

M Parker, AV Corrigalll, RJ Hift, PN Meissner
  • 2008

Molecular characterization of erythropoietic protoporphyria in South Africa

M Parker, AV Corrigalll, RJ Hift, PN. Meissner
  • Br. J. Dermatol
  • 2008

Liver transplantation for erythropoietic protoporphyria liver disease.

  • Liver transplantation : official publication of the American Association for the Study of Liver Diseases and the International Liver Transplantation Society
  • 2005
VIEW 1 EXCERPT

for erythropoietic pro - toporphyria liver disease . Liver Transpl

BM McGuire, HL Bonkovsky, RL Carithers
  • Liver transplantation
  • 2005