红细胞生成性原卟啉病。一项临床与遗传学研究。 - Suppr

Erythropoietic protoporphyria. A clinical and genetic study.

作者信息

Reed W B, Wuepper K D, Epstein J H, Redeker A, Simonson R J, McKusick V A

出版信息

JAMA. 1970 Nov 9;214(6):1060-6. doi: 10.1001/jama.214.6.1060.

DOI:10.1001/jama.214.6.1060

PMID:5536249

Abstract

摘要

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Erythropoietic protoporphyria. A clinical and genetic study.

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Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

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An autopsy case of erythropoietic protoporphyria with cholestatic jaundice and hepatic failure, and a review of literature.

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Studies in porphyria: functional evidence for a partial deficiency of ferrochelatase activity in mitogen-stimulated lymphocytes from patients with erythropoietic protoporphyria.

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[Erythropoietic protoporphyria: porphyrin content of a gall-stone (author's transl)].

Arch Dermatol Res (1975). 1976 Oct 27;256(3):283-9. doi: 10.1007/BF00572494.

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Erythropoietic protoporphyria. A clinical and genetic study.

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Erythropoietic protoporphyria. A clinical and genetic study.

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