Literature DB >> 9211198

Erythropoietic protoporphyria.

T M Cox1.   

Abstract

Partial deficiency of the last enzyme of haem biosynthesis, ferrochelatase, leads to a distinct syndrome of photosensitivity caused by overproduction of protoporphyrin by erythropoietic tissue. Erythropoietic protoporphyria has an indeterminate pattern of inheritance and may be complicated by fulminating liver disease. The recent development of simple assays for ferrochelatase activity and cloning of the human ferrochelatase gene promises to shed light on the transmission of this disorder and may allow clinical expression of disease to be predicted. This review surveys the pathological features, genetics and treatment of porphyria.

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Year:  1997        PMID： 9211198     DOI： 10.1023/a:1005317124985

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  67 in total

Review 1.  Erythropoietic protoporphyria: clinical aspects with emphasis on the skin.

Authors:  H Baart de la Faille; J C Bijlmer-Iest; J van Hattum; J Koningsberger; L H Rademakers; H van Weelden
Journal:  Curr Probl Dermatol       Date:  1991

2.  Ferrochelatase activities in patients with erythropoietic protoporphyria and their families.

Authors:  G Goerz; S Bunselmeyer; K Bolsen; N Y Schürer
Journal:  Br J Dermatol       Date:  1996-05       Impact factor: 9.302

3.  The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

Authors:  Y Nakahashi; H Fujita; S Taketani; N Ishida; A Kappas; S Sassa
Journal:  Proc Natl Acad Sci U S A       Date:  1992-01-01       Impact factor: 11.205

4.  Reaction between molecular oxygen and photo-excited protoporphyrin IX.

Authors:  J Dalton; C A McAuliffe; D H Slater
Journal:  Nature       Date:  1972-02-18       Impact factor: 49.962

5.  Recovery from hepatic decompensation in protoporphyria.

Authors:  C L Conley; J J Chisholm
Journal:  Johns Hopkins Med J       Date:  1979-12

6.  Blood exchange and transfusion therapy for acute cholestasis in protoporphyria.

Authors:  H J van Wijk; J van Hattum; H Baart de la Faille; J W van den Berg; A Edixhoven-Bosdijk; J H Wilson
Journal:  Dig Dis Sci       Date:  1988-12       Impact factor: 3.199

7.  A novel mutation in erythropoietic protoporphyria: an aberrant ferrochelatase mRNA caused by exon skipping during RNA splicing.

Authors:  X Wang; M Poh-Fitzpatrick; D Carriero; L Ostasiewicz; T Chen; S Taketani; S Piomelli
Journal:  Biochim Biophys Acta       Date:  1993-04-30

8.  Modulation of the phenotype in dominant erythropoietic protoporphyria by a low expression of the normal ferrochelatase allele.

Authors:  L Gouya; J C Deybach; J Lamoril; V Da Silva; C Beaumont; B Grandchamp; Y Nordmann
Journal:  Am J Hum Genet       Date:  1996-02       Impact factor: 11.025

9.  Molecular defect in human erythropoietic protoporphyria with fatal liver failure.

Authors:  Y Nakahashi; H Miyazaki; Y Kadota; Y Naitoh; K Inoue; M Yamamoto; N Hayashi; S Taketani
Journal:  Hum Genet       Date:  1993-05       Impact factor: 4.132

10.  Molecular defects in erythropoietic protoporphyria with terminal liver failure.

Authors:  X Schneider-Yin; B W Schäfer; P Möhr; G Burg; E I Minder
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
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  12 in total

Review 1.  Porphyrias at a glance: diagnosis and treatment.

Authors:  Maria Domenica Cappellini; Valentina Brancaleoni; Giovanna Graziadei; Dario Tavazzi; Elena Di Pierro
Journal:  Intern Emerg Med       Date:  2010-10       Impact factor: 3.397

2.  Erythropoietic protoporphyria: a case report and literature review.

Authors:  Brent D Michaels; James Q Del Rosso; Narciss Mobini; Jason R Michaels
Journal:  J Clin Aesthet Dermatol       Date:  2010-07

Review 3.  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 4.  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

5.  Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Authors:  U B Rüfenacht; L Gouya; X Schneider-Yin; H Puy; B W Schäfer; R Aquaron; Y Nordmann; E I Minder; J C Deybach
Journal:  Am J Hum Genet       Date:  1998-06       Impact factor: 11.025

Review 6.  Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

Authors:  Makiko Yasuda; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2019-01-18       Impact factor: 4.797

Review 7.  Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review.

Authors:  Zhang-Biao Long; Yong-Wei Wang; Chen Yang; Gang Liu; Ya-Li Du; Guang-Jun Nie; Yan-Zhong Chang; Bing Han
Journal:  J Zhejiang Univ Sci B       Date:  2016 Oct.       Impact factor: 3.066

Review 8.  Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Authors:  Vaithamanithi-Mudumbai Sadagopa Ramanujam; Karl Elmo Anderson
Journal:  Curr Protoc Hum Genet       Date:  2015-07-01

9.  Is it possible for Fe2+ to approach protoporphyrin IX from the side of Tyr-13 in Bacillus subtilis ferrochelatase? An answer from QM/MM study.

Authors:  Yaxue Wang; Yong Shen
Journal:  J Mol Model       Date:  2012-10-25       Impact factor: 1.810

10.  Abcb10 role in heme biosynthesis in vivo: Abcb10 knockout in mice causes anemia with protoporphyrin IX and iron accumulation.

Authors:  Masatatsu Yamamoto; Hiroshi Arimura; Tomoko Fukushige; Kentarou Minami; Yukihiko Nishizawa; Akihide Tanimoto; Takuro Kanekura; Masayuki Nakagawa; Shin-Ichi Akiyama; Tatsuhiko Furukawa
Journal:  Mol Cell Biol       Date:  2014-01-13       Impact factor: 4.272
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