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MeSH Review

Porphyria, Hepatoerythropoietic

 
 
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Disease relevance of Porphyria, Hepatoerythropoietic

 

High impact information on Porphyria, Hepatoerythropoietic

 

Biological context of Porphyria, Hepatoerythropoietic

 

Anatomical context of Porphyria, Hepatoerythropoietic

 

Gene context of Porphyria, Hepatoerythropoietic

  • Hepatoerythropoietic porphyria (HEP) is an inherited metabolic disorder characterized by the accumulation of porphyrins resulting from a deficiency in uroporphyrinogen decarboxylase (UROD) [5].

References

  1. Uroporphyrinogen decarboxylase structural mutant (Gly281----Glu) in a case of porphyria. de Verneuil, H., Grandchamp, B., Beaumont, C., Picat, C., Nordmann, Y. Science (1986) [Pubmed]
  2. Epoetin for severe anemia in hepatoerythropoietic porphyria. Horina, J.H., Wolf, P. N. Engl. J. Med. (2000) [Pubmed]
  3. Effective targeted gene 'knockdown' in zebrafish. Nasevicius, A., Ekker, S.C. Nat. Genet. (2000) [Pubmed]
  4. Hepatoerythropoietic porphyria: clinical, biochemical, and enzymatic studies in a three-generation family lineage. Toback, A.C., Sassa, S., Poh-Fitzpatrick, M.B., Schechter, J., Zaider, E., Harber, L.C., Kappas, A. N. Engl. J. Med. (1987) [Pubmed]
  5. Correction of uroporphyrinogen decarboxylase deficiency (hepatoerythropoietic porphyria) in Epstein-Barr virus-transformed B-cell lines by retrovirus-mediated gene transfer: fluorescence-based selection of transduced cells. Fontanellas, A., Mazurier, F., Moreau-Gaudry, F., Belloc, F., Ged, C., de Verneuil, H. Blood (1999) [Pubmed]
  6. Uroporphyrinogen decarboxylase deficiency in hepatoerythropoietic porphyria: further evidence for genetic heterogeneity. Kószó, F., Elder, G.H., Roberts, A., Simon, N. Br. J. Dermatol. (1990) [Pubmed]
  7. Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda? Elder, G.H., Smith, S.G., Herrero, C., Lecha, M., Mascaro, J.M., Muniesa, A.M., Czarnecki, D.B., Brenan, J., Poulos, V., DE Salamanca, R.E. Lancet (1981) [Pubmed]
  8. Five new mutations in the uroporphyrinogen decarboxylase gene identified in families with cutaneous porphyria. McManus, J.F., Begley, C.G., Sassa, S., Ratnaike, S. Blood (1996) [Pubmed]
 
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