2007Postgraduate Medical JournalOpen access

Liver disease in erythropoietic protoporphyria: insights and implications for management

A. Anstey, Richard Hift

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Abstract

Autosomal dominant, incomplete penetrance Erythropoietic protoporphyria Yes Autosomal recessive (very rare) and autosomal dominant incomplete penetranceFigure 2 The fate of protoporphyrin IX in erythropoietic protoporphyria.

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Autosomal dominant, incomplete penetrance Erythropoietic protoporphyria Yes Autosomal recessive (very rare) and autosomal dominant incomplete penetranceFigure 2 The fate of protoporphyrin IX in erythropoietic protoporphyria.

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Available abstract

Autosomal dominant, incomplete penetrance Erythropoietic protoporphyria Yes Autosomal recessive (very rare) and autosomal dominant incomplete penetranceFigure 2 The fate of protoporphyrin IX in erythropoietic protoporphyria.

Key concepts: Ferrochelatase, Erythropoietic protoporphyria, Porphyria, Porphyria cutanea tarda, Protoporphyrin, Liver disease, Medicine, Heme

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