Allan G. Redeker, M.D.
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Erythropoietic protoporphyria, a new medical syndrome first described in 1961, is a familial, photocutaneous disorder, inherited as a Mendelian dominant. The hallmark of the disease is a marked increase in the erythrocyte protoporphyrin content. The fecal protoporphyrin excretion is similarly increased, but protoporphyrin does not appear in the urine. The photosensitivity is due to protoporphyrin circulating in the plasma. The source of the plasma porphyrin may be either hepatic or erythropoietic or both. In some families, asymptomatic individuals with increased erythrocyte protoporphyrin values but no porphyrin in the plasma have been observed. Photosensitivity begins early in childhood and may present
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Redeker AG. Erythropoietic Protoporphyria: A New Clinical Syndrome.. Ann Intern Med. 1964;61:811. doi: 10.7326/0003-4819-61-4-811_1
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Published: Ann Intern Med. 1964;61(4):811.
Gastroenterology/Hepatology, Liver Disease.
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Print ISSN: 0003-4819 | Online ISSN: 1539-3704
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