Literature DB >> 15286165

Autosomal recessive erythropoietic protoporphyria in the United Kingdom: prevalence and relationship to liver disease.

S D Whatley1, N G Mason, M Khan, M Zamiri, M N Badminton, W N Missaoui, T A Dailey, H A Dailey, W S Douglas, N J Wainwright, G H Elder.   

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Year:  2004        PMID： 15286165      PMCID： PMC1473220          DOI： 10.1136/jmg.2003.016121

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  13 in total

Review 1.  Liver disease in erythropoietic protoporphyria: insights and implications for management.

Authors:  A V Anstey; R J Hift
Journal:  Postgrad Med J       Date:  2007-12       Impact factor: 2.401

Review 2.  Liver disease in erythropoietic protoporphyria: insights and implications for management.

Authors:  A V Anstey; R J Hift
Journal:  Gut       Date:  2007-03-14       Impact factor: 23.059

3.  Paralytic ileus and liver failure--an unusual presentation of advanced erythropoietic protoporphyria.

Authors:  Simone Negrini; Gabriele Zoppoli; Maurizio Setti; Maria Domenica Cappellini; Francesco Indiveri
Journal:  Dig Dis Sci       Date:  2008-11-14       Impact factor: 3.199

4.  Production and characterization of erythropoietic protoporphyric heterodimeric ferrochelatases.

Authors:  Wided Najahi-Missaoui; Harry A Dailey
Journal:  Blood       Date:  2005-04-14       Impact factor: 22.113

5.  Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.

Authors:  Charles J Parker; Robert J Desnick; Montgomery D Bissel; Joseph R Bloomer; Ashwani Singal; Laurent Gouya; Herve Puy; Karl E Anderson; Manisha Balwani; John D Phillips
Journal:  Mol Genet Metab       Date:  2019-07-31       Impact factor: 4.797

6.  Erythropoietin signaling regulates heme biosynthesis.

Authors:  Jacky Chung; Johannes G Wittig; Alireza Ghamari; Manami Maeda; Tamara A Dailey; Hector Bergonia; Martin D Kafina; Emma E Coughlin; Catherine E Minogue; Alexander S Hebert; Liangtao Li; Jerry Kaplan; Harvey F Lodish; Daniel E Bauer; Stuart H Orkin; Alan B Cantor; Takahiro Maeda; John D Phillips; Joshua J Coon; David J Pagliarini; Harry A Dailey; Barry H Paw
Journal:  Elife       Date:  2017-05-29       Impact factor: 8.140

7.  Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.

Authors:  Laurent Gouya; Caroline Martin-Schmitt; Anne-Marie Robreau; Frederic Austerlitz; Vasco Da Silva; Patrick Brun; Sylvie Simonin; Said Lyoumi; Bernard Grandchamp; Carole Beaumont; Herve Puy; Jean-Charles Deybach
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

Review 8.  Erythropoietic Protoporphyria and X-Linked Protoporphyria: pathophysiology, genetics, clinical manifestations, and management.

Authors:  Manisha Balwani
Journal:  Mol Genet Metab       Date:  2019-01-24       Impact factor: 4.797

9.  Novel null-allele mutations and genotype-phenotype correlation in Argentinean patients with erythropoietic protoporphyria.

Authors:  Victoria E Parera; Rita H Koole; Gardi Minderman; Annie Edixhoven; Maria V Rossetti; Alcira Batlle; Felix W M de Rooij
Journal:  Mol Med       Date:  2009-08-12       Impact factor: 6.354

Review 10.  Erythropoietic protoporphyria.

Authors:  Mario Lecha; Hervé Puy; Jean-Charles Deybach
Journal:  Orphanet J Rare Dis       Date:  2009-09-10       Impact factor: 4.123
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