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  • Title: [Erythropoietic protoporphyria].
    Author: Miura T.
    Journal: Nihon Rinsho; 1995 Jun; 53(6):1438-42. PubMed ID: 7616660.
    Abstract:
    Erythropoietic protoporphyria is an autosomal inherited disease characterized by decreased ferrochelatase activity. This abnormality results in excess protoporphyrin accumulation not only in red blood cells but also in other organs such as skin, and causes various degrees of skin photosensitivity according to degrees of decreased ferrochelatase activity. An excess protoporphyrin accumulation in liver results in severe liver damage which might cause juvenile death in some patients. Clinical views including its diagnosis and treatment are briefly summarized, and possible relationship between skin porphyrin level and skin photosensitivity is discussed.
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