- Ocular Manifestation of Compound Heterozygotic Mutation in Congenital Erythropoietic Porphyria
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Kim SE, Lee HK
- KMID: 2111262
- J Korean Ophthalmol Soc.
- 2009 Mar;50(3):477-480.
- doi: 10.3341/jkos.2009.50.3.477
PURPOSE: Congenital erythropoietic porphyria (CEP) is a rare disorder inherited as an autosomal recessive trait, which is characterized by almost complete reduction of uroporphyrinogen III synthase (UROS) activity. The authors... -
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- A Case of Congenital Erythropoietic Porphyria
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Hwang JS, Na GY, Chung SL, Suh SB
- KMID: 2231645
- Korean J Dermatol.
- 1985 Oct;23(5):686-690.
A 3-year-old-male had the appearance of red urine at birth and developed recurrent bullae in sun-exposed area of the skin, erythrodontia, alopecia, splenomegaly and hemolytic anemia, We observed coral red... -
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