Literature DB >> 5536249

Erythropoietic protoporphyria. A clinical and genetic study.

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

Abstract

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Year:  1970        PMID： 5536249     DOI： 10.1001/jama.214.6.1060

Source DB:  PubMed          Journal:  JAMA        ISSN： 0098-7484            Impact factor:   56.272


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  12 in total

1.  Erythrohepatic protoporphyria.

Authors:  E A Sprague
Journal:  Calif Med       Date:  1972-06

Review 2.  The skin in genetically-controlled metabolic disorders.

Authors:  P C Newbold
Journal:  J Med Genet       Date:  1973-06       Impact factor: 6.318

3.  Erythropoietic protoporphyria. Photoactivation of the complement system.

Authors:  I Gigli; A A Schothorst; N A Soter; M A Pathak
Journal:  J Clin Invest       Date:  1980-09       Impact factor: 14.808

Review 4.  Enzymatic defects of hereditary porphyrias: an explanation of dominance at the molecular level.

Authors:  G Romeo
Journal:  Hum Genet       Date:  1977-12-23       Impact factor: 4.132

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

Authors:  G Goerz; T Krieg; K Bolsen; S Seubert; H Ippen
Journal:  Arch Dermatol Res       Date:  1976-10-27       Impact factor: 3.017

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

Authors:  Y Nakanuma; M Wada; N Kono; H Miyamura; G Ohta
Journal:  Virchows Arch A Pathol Anat Histol       Date:  1981

Review 7.  Dominant versus recessive: molecular mechanisms in metabolic disease.

Authors:  Johannes Zschocke
Journal:  J Inherit Metab Dis       Date:  2008-10-21       Impact factor: 4.982

8.  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.

Authors:  Manisha Balwani; Dana Doheny; David F Bishop; Irina Nazarenko; Makiko Yasuda; Harry A Dailey; Karl E Anderson; D Montgomery Bissell; Joseph Bloomer; Herbert L Bonkovsky; John D Phillips; Lawrence Liu; Robert J Desnick
Journal:  Mol Med       Date:  2013-04-30       Impact factor: 6.354

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

Authors:  S Sassa; G L Zalar; M B Poh-Fitzpatrick; K E Anderson; A Kappas
Journal:  J Clin Invest       Date:  1982-04       Impact factor: 14.808

Review 10.  Comparison of human and bovine protoporphyria.

Authors:  D A Brenner; J R Bloomer
Journal:  Yale J Biol Med       Date:  1979 Sep-Oct
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