Skip to search formSkip to main contentSkip to account menu

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… 
National Institutes of Health

Related topics

Related topics

35 relations
AlopeciaAnemia, HemolyticAutosomal recessive inheritanceBulla

Broader (2)

Disorders of Porphyrin MetabolismHereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2000
Review
2000
New insights into the pathogenesis of erythropoietic protoporphyria and their impact on patient care
Abstract Erythropoietic protoporphyria (EPP, MIM 177000) is an inherited disorder caused by a partial deficiency of… 
Highly Cited
1996
Highly Cited
1996
Porphyrin metalation catalyzed by a small RNA molecule
We report here the isolation and characterization of a 35-nucleotide (nt) RNA that catalyzes the related Cu(II) insertion into… 
1982
1982
Screening for latent acute intermittent porphyria: the value of measuring both leucocyte delta-aminolaevulinic acid synthase and erythrocyte uroporphyrinogen-1-synthase activities.
Acute intermittent porphyria (AIP) is an autosomal dominantly inherited disorder of haem biosynthesis characterised by reduced… 
Highly Cited
1981
Highly Cited
1981
Normal erythrocyte uroporphyrinogen I synthase in a kindred with acute intermittent porphyria.
The diagnosis of acute intermittent porphyria was made in 10 members of a large kindred because of increased excretion of… 
Highly Cited
1973
Highly Cited
1973
Cholesterol Hydroperoxide Formation in Red Cell Membranes and Photohemolysis in Erythropoietic Protoporphyria
3β-Hydroxy-5α-hydroperoxy-Δ6-cholestene is produced in protoporphyrin-containing red blood cell ghosts irradiated with… 
Highly Cited
1973
Highly Cited
1973
Erythropoietic protoporphyria with features of a sideroblastic anaemia terminating in liver failure.
Highly Cited
1972
Highly Cited
1972
Photodynamic damage of the erythrocyte membrane caused by protoporphyrin in protoporphyria and in normal red blood cells.
1968
1968
Uroporphyrinogen m Cosynthetase in Bovine Erythropoietic Porphyria
The activity of uroporphyrinogen III cosynthetase is much lower in hemolyzates from mature cattle with congenital erythropoietic… 
Highly Cited
1964
Highly Cited
1964
ERYTHROPOIETIC PROTOPORPHYRIA AND PHOTOHEMOLYSIS.
Erythropoietic protoporphyria is a relatively rare metabolic anomaly occurring in childhood and characterized by various types of… 
Highly Cited
1950
Highly Cited
1950
Studies in congenital porphyria. 2. Incorporation of 15N in the stercobilin in the normal and in the porphyric.
In man, hippuric acid is formed mainly in the liver. This organ contains appreciable amounts of -free glycine and other… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)