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Nrf2 activators for the treatment of rare iron overload diseases: From bench to bedside. [PDF]
Redox BiolDong Y +5 more
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Erythropoietic protoporphyria in a child
European Journal of Pediatrics, 1989 Erythropoietic protoporphyria (EPP), a recently described form of porphyria, often remains unrecognized. We report the case of a 7-year-old girl admitted for investigation of photosensitivity since the age of 18 months without any significant objective cutaneous lesions.
M, Piotte +3 more
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Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report [PDF]
World Journal of Gastroenterology, 2019 Erythropoietic protoporphyria (EPP) is an extremely rare disease which is often unrecognized as diagnosis. In the recent article Lui et al describe a patient with a new diagnosis of EPP with severe liver injury.
Debby Wensink +2 more
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Erythropoietic protoporphyria.
British Journal of Dermatology, 1976The terminal stages of erythropoietic protoporphyria are recorded. The observations are related to the site of the fundamental lesion and the nature of the biochemical defect. The possibly ominous prognosis in this usually mild condition is emphasized. Apart from congenital porphyria, the porphyrias do not usually confer severe cutaneous lesions. These
D M, Macdonald, D C, Nicholson
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Pseudoainhum and erythropoietic protoporphyria
British Journal of Dermatology, 1988We report the development of pseudoainhum in a patient with erythropoietic protoporphyria, the first report, to our knowledge, of these two unusual conditions occurring together. An excellent cosmetic and functional result was achieved with a Z plasty.
A P, Christopher +2 more
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British Journal of Dermatology, 1994
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
openaire +2 more sources
Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme of the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.
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Erythropoietic Protoporphyria and Photohemolysis
JAMA, 1964Erythropoietic protoporphyria is a relatively rare metabolic anomaly occurring in childhood and characterized by various types of cutaneous lesions on light-exposed areas. The lesions are a photosensitive response to an excess of protoporphyrin. Diagnosis can be established by demonstrating a quantitative increase in erythrocyte protoporphyrin levels ...
L C, HARBER, A S, FLEISCHER, R L, BAER
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Journal of Inherited Metabolic Disease, 1997
AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
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AbstractPartial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of
openaire +2 more sources