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Variegate Porphyria

Known as: Porphyria, Variegate [Disease/Finding], Ppox Deficiency, Protocoproporphyria 
An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8… 
National Institutes of Health

Related topics

Related topics

21 relations
Abdominal PainAcute intermittent porphyriaAutosomal dominant inheritanceConstipation

Broader (1)

Porphyrias, Hepatic

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2004
Highly Cited
2004
Modulation of penetrance by the wild-type allele in dominantly inherited erythropoietic protoporphyria and acute hepatic porphyrias
We have recently demonstrated that in an autosomal dominant porphyria, erythropoietic protoporphyria (EPP), the coinheritance of… 
Highly Cited
1998
Highly Cited
1998
Dramatic resolution of skin lesions associated with porphyria cutanea tarda after interferon-alpha therapy in a case of chronic hepatitis C.
1997
1997
Mixed connective tissue disease. A clinical, histologic, and immunofluorescence study of eight cases.
A study of the cutaneous eruptions of eight patients with mixed connective tissue disease (MCTD) was performed to better… 
1996
1996
Cloning and Characterization of the Yeast HEM14 Gene Coding for Protoporphyrinogen Oxidase, the Molecular Target of Diphenyl Ether-type Herbicides (*)
Protoporphyrinogen oxidase, which catalyzes the oxygen-dependent aromatization of protoporphyrinogen IX to protoporphyrin IX, is… 
1996
1996
Molecular basis of variegate porphyria: a de novo insertion mutation in the protoporphyrinogen oxidase gene
Abstract The porphyrias are disorders that result from the inherited or acquired dysregulation of one of the eight enzymes in the… 
Highly Cited
1973
Highly Cited
1973
STUDIES IN PORPHYRIA
Patients with the genetic liver disease, acute intermittent porphyria (AIP), have a defect in the reductive transformation of… 
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
1966
Highly Cited
1966
Activity of Amino-laevulinic Acid Synthetase in Normal and Porphyric Human Livers
ACUTE intermittent porphyria (AIP) is well known as an inborn error of porphyrin metabolism, clinically characterized by attacks… 
1960
1960
THE LIVER IN PORPHYRIA CUTANEA TARDA
Excerpt The porphyrias belong to the group of diseases that have been called inborn errors of metabolism. So-called congenital or… 
Highly Cited
1955
Highly Cited
1955
Experimental porphyria. IV. Studies of liver catalase and other heme enzymes in sedormid porphyria.
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