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congenital erythropoietic porphyria

Also found in: Dictionary/thesaurus, Acronyms, Encyclopedia, Wikipedia, Hutchinson

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n. Abbr. CEP

Enhanced porphyrin formation by erythroid cells in bone marrow, leading to severe porphyrinuria, often with hemolytic anemia and persistent cutaneous photosensitivity. Also called Günther's disease.

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CEP
Gunther's disease

Günther's disease
Porphyria

Studies of porphyrin synthesis in fibroblasts of patients with congenital erythropoietic porphyria and one patient with homozygous coproporphyria.

Gene expression profiles associated with inflammation, fibrosis, and ... by Smith, Andrew G. / Environmental Health Perspectives

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