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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… 
National Institutes of Health

Related topics

Related topics

24 relations
Anemia, HemolyticAutosomal recessive inheritanceBiliary calculiBurning sensation

Broader (2)

Disorders of Porphyrin MetabolismHereditary Diseases

Narrower (1)

Protoporphyria, Erythropoietic, X-Linked Dominant

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
1993
1993
Cysteine ameliorates photosensitivity in erythropoietic protoporphyria.
Patients with erythropoietic protoporphyria (EPP) experience symptoms of photosensitivity (erythema, pruritus, burning, and edema… 
1985
1985
[Liver transplantation in children].
Liver transplantation has become a clinical therapeutic modality for end stage liver diseases. The results achieved in children… 
1982
1982
Hepatic clearance and biliary secretion of protoporphyrin in the isolated, in situ-perfused rat liver.
Models to explain the pathophysiology of protoporphyria have been based on fluxes of protoporphyrin between plasma and liver for… 
1981
1981
Transfusion therapy in a patient with erythropoietic protoporphyria.
An 8-year-old boy with erythropoietic protoporphyria had a marked decrease in photosensitivity symptoms after several… 
1979
1979
Phototesting as an objective measure of improvement in erythropoietic protoporphyria.
To the Editor.— Attempts have been made by several groups to assess the photosensitivity of patients with erythropoietic… 
1974
1974
Rapid Quantitative Assay for Erythrocyte Porphyrins: Rapid Quantitative Microfluorometric Assay Applicable to the Diagnosis of Erythropoietic Protoporphyria
The rapid quantitative microfluorometric assay for free erythrocyte porphyrins can be applied in the diagnosis of erythropoietic… 
Highly Cited
1971
Highly Cited
1971
Influence of lanthanum on transmitter release at the neuromuscular junction.
The presynaptic influence of lanthanum on neuromuscular transmission was studied in the isolated sciatic nerve-sartorius muscle… 
1966
1966
Iodine tungsten fluorescence microscopy for porphyrin fluorescence. A study on erythropoietic protoporphyria.
The fluorescence of protoporphyrin in tissue fades rapidly, in contrast to uroporphyrin or coproporphyrin, when examined by the… 
1964
1964
ERYTHROPOIETIC PROTOPORPHYRIA PRESENTING AS HYDROA AESTIVALE.
Three patients with erythropoietic protoporphyria, the first to be reported from this country, have been studied. In each, as in… 
1962
1962
Erythropoietic Protoporphyria with Eczema Solare: Report of a Case
An 8-year-old boy exhibits a chronic photosensitive cutaneous disorder since the age of 3 years. A marked elevation of the free…