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Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease)

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Journal of Inherited Metabolic Disease

Summary

We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.

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Nordmann, Y., Amram, D., Deybach, J.C. et al. Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease). J Inherit Metab Dis 13, 687–691 (1990). https://doi.org/10.1007/BF01799568

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  • DOI: https://doi.org/10.1007/BF01799568

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