Porphyria, Erythropoietic

Known as: congenital porphyria, Erythropoietic Porphyrias, Porphyrias, Erythropoietic 
An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital… (More)
National Institutes of Health

Papers overview

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Highly Cited
2011
Highly Cited
2011
Risk taking is an integral part of learning and development, particularly during adolescence the prevalence of risky behaviors… (More)
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2007
2007
Congenital erythropoietic porphyria (CEP), an autosomal recessive disorder, is due to mutations of uroporphyrinogen III synthase… (More)
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Review
2005
Review
2005
A63-year-old woman was transferred to Brigham and Women’s Hospital with massive saddle pulmonary embolism (PE) diagnosed by chest… (More)
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Highly Cited
2005
Highly Cited
2005
Iron-regulatory proteins (IRPs) 1 and 2 posttranscriptionally regulate expression of transferrin receptor (TfR), ferritin, and… (More)
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Highly Cited
2004
Highly Cited
2004
Acute intermittent porphyria occasionally causes frequent and crippling acute neurovisceral attacks associated with increased… (More)
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2001
2001
Congenital erythropoietic porphyria, an autosomal recessive inborn error of heme biosynthesis, results from the markedly… (More)
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Review
1998
Review
1998
Congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis, results from the markedly… (More)
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1991
1991
Congenital erythropoietic porphyria, a disorder of haem synthesis, is caused by uroporphyrinogen III synthase deficiency in bone… (More)
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Highly Cited
1974
Highly Cited
1974
The cell culture method originally devised the total pool of human CFU-E in that they by Stephenson and Axelrad for erythrohave a… (More)
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1972
1972
Congenital erythropoietic porphyria (CEP) is a rare cutaneous pophyria which presents with photosensitivity, complicated by… (More)
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