Literature DB >> 3955899

The erythropoietic porphyrias.

M B Poh-Fitzpatrick.   

Abstract

There are two well-characterized disorders of porphyrin-heme metabolism in which the bulk of the porphyrins that accumulate in excess are formed chiefly within juvenile erythroid elements of the bone marrow. The first is most often termed congenital erythropoietic porphyria, and the second is most often termed erythropoietic protoporphyria. The former is a rare disorder, whereas the latter is one of the two most common porphyrias (along with porphyria cutanea tarda) and has a good probability of being encountered in general dermatologic practice. Both are determined genetically, cause cutaneous photosensitivity and systemic complications of importance, and are amenable to various forms of therapy.

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Year:  1986        PMID: 3955899

Source DB:  PubMed          Journal:  Dermatol Clin        ISSN: 0733-8635            Impact factor:   3.478


  6 in total

1.  The diagnosis and management of erythropoietic protoporphyria.

Authors:  Manish Thapar; Herbert L Bonkovsky
Journal:  Gastroenterol Hepatol (N Y)       Date:  2008-08

2.  Uroporphyrinogen III synthase knock-in mice have the human congenital erythropoietic porphyria phenotype, including the characteristic light-induced cutaneous lesions.

Authors:  David F Bishop; Annika Johansson; Robert Phelps; Amr A Shady; Maria C M Ramirez; Makiko Yasuda; Andres Caro; Robert J Desnick
Journal:  Am J Hum Genet       Date:  2006-02-09       Impact factor: 11.025

Review 3.  Erythroid heme biosynthesis and its disorders.

Authors:  Harry A Dailey; Peter N Meissner
Journal:  Cold Spring Harb Perspect Med       Date:  2013-04-01       Impact factor: 6.915

Review 4.  Congenital erythropoietic porphyria: Recent advances.

Authors:  Angelika L Erwin; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2018-12-27       Impact factor: 4.797

5.  Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene.

Authors:  W Xu; C A Warner; R J Desnick
Journal:  J Clin Invest       Date:  1995-02       Impact factor: 14.808

Review 6.  Dental-craniofacial manifestation and treatment of rare diseases.

Authors:  En Luo; Hanghang Liu; Qiucheng Zhao; Bing Shi; Qianming Chen
Journal:  Int J Oral Sci       Date:  2019-02-20       Impact factor: 6.344

  6 in total

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