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Case Reports
. 2017 Apr 13;3(3):169-171.
doi: 10.1016/j.jdcr.2017.01.025. eCollection 2017 May.

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

Megumi Mizawa  1 , Teruhiko Makino  1 , Fumina Furukawa  1 , Ryotaro Torai  1 , Hajime Nakano  2 , Daisuke Sawamura  2 , Tadamichi Shimizu  1
Affiliations
Case Reports

The 6-year follow-up of a Japanese patient with silent erythropoietic protoporphyria

Megumi Mizawa et al. JAAD Case Rep. .
No abstract available

Keywords: EPP, erythropoietic protoporphyria; FECH, ferrochelatase; IVS3-48C; PP, protoporphyrin; erythropoietic protoporphyria; ferrochelatase; iEPP, incomplete erythropoietic protoporphyria; incomplete erythropoietic protoporphyria; photosensitivity; silent erythropoietic protoporphyria.

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Figures

Fig 1
Fig 1
Fluorocytes and the pedigree of the patient. A, Fluorocytes were observed in the patient. B, The pedigree of the family with EPP. The solid symbols refer to symptomatic individuals. T and C represent wild-type IVS3-48T and IVS3-48C, respectively. M, c.286C>T; WT, wild-type.
Fig 2
Fig 2
The clinical course of EPP development.
Fig 3
Fig 3
The age at the onset of symptoms of 72 EPP patients reported in Japan.
See this image and copyright information in PMC

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References

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