Erythropoietic Protoporphyria

Known as: Protoporphyria, Erythropoietic [Disease/Finding], protoporphyria erythropoietic, EPP 
A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme… (More)
National Institutes of Health

Related topics

Related topics

24 relations
Anemia, HemolyticAutosomal recessive inheritanceBiliary calculiBurning sensation
(More)

Broader (2)

Disorders of Porphyrin MetabolismHereditary Diseases

Narrower (1)

Protoporphyria, Erythropoietic, X-Linked Dominant

Papers overview

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Review
2009
Review
2009
Erythropoietic protoporphyria
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of… (More)
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2007
2007
Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria.
Erythropoietic protoporphyria (EPP) results from deficiency of ferrochelatase (FECH). Accumulation of protoporphyrin IX causes… (More)
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Highly Cited
2005
Highly Cited
2005
Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2.
Iron-regulatory proteins (IRPs) 1 and 2 posttranscriptionally regulate expression of transferrin receptor (TfR), ferritin, and… (More)
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Review
2003
Review
2003
Erythropoietic protoporphyria.
  • M. Lecha
  • Photodermatology, photoimmunology & photomedicine
  • 2003
Erythropoietic protoporphyria (EPP) is an inherited disorder of the haem metabolic pathway characterised by accumulation of… (More)
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Highly Cited
2002
Highly Cited
2002
The breast cancer resistance protein protects against a major chlorophyll-derived dietary phototoxin and protoporphyria.
The breast cancer resistance protein (BCRPABCG2) is a member of the ATP-binding cassette family of drug transporters and confers… (More)
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Highly Cited
2002
Highly Cited
2002
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH
Erythropoietic protoporphyria (EPP) is an inherited disorder of heme biosynthesis caused by a partial deficiency of… (More)
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1999
1999
Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation.
Erythropoietic protoporphyria (EPP) is a rare autosomal dominant disorder of heme biosynthesis characterized by partial decrease… (More)
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Highly Cited
1996
Highly Cited
1996
Mixed-state entanglement and quantum error correction.
Entanglement purification protocols (EPP) and quantum errorcorrecting codes (QECC) provide two ways of protecting quantum states… (More)
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1984
1984
Genetic aspects of erythropoietic protoporphyria.
An exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder… (More)
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1975
1975
Hepatic disease in erythropoietic protoporphyria.
Two sisters had erythropoietic protoporphyria and a spectrum of liver disease. One (F.B.) died in hepatic failure within 3 months… (More)
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