[Congenital erythropoietic porphyria].

Article

[Congenital erythropoietic porphyria].

Nihon rinsho. Japanese journal of clinical medicine - 1 Jun 1995

Tanigawa K, Takamura N, Yamashita S

Abstract excerpt

Congenital erythropoietic porphyria (CEP, Günther's disease) is an extremely rare autosomal recessive disease (There have been only 33 case reports in Japan to date.), characterized by mutilating cutaneous photosensitivity and abnormal haem synthesis in the bone marrow. Reduced activity of uropor...

Topics

Female
Humans
Japan
Male
Mutation
Porphyria, Erythropoietic
Uroporphyrinogen III Synthetase

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