Literature DB >> 5778714

A case of biochemically unclassifiable hepatic porphyria.

J P Aguadé, A Castells, A Indacochea, J Rodés.   

Abstract

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Year:  1969        PMID: 5778714     DOI: 10.1111/j.1365-2133.1969.tb13979.x

Source DB:  PubMed          Journal:  Br J Dermatol        ISSN: 0007-0963            Impact factor:   9.302


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  6 in total

1.  Hepatoerythropoietic porphyria misdiagnosed as child abuse: cutaneous, arthritic, and hematologic manifestations in siblings with a novel UROD mutation.

Authors:  Julie L Cantatore-Francis; Jessica Cohen-Pfeffer; Manisha Balwani; Philip Kahn; Herbert M Lazarus; Robert J Desnick; Julie V Schaffer
Journal:  Arch Dermatol       Date:  2010-05

Review 2.  The porphyrias: a review.

Authors:  G H Elder; C H Gray; D C Nicholson
Journal:  J Clin Pathol       Date:  1972-12       Impact factor: 3.411

3.  Hepatoerythropoietic porphyria due to a novel mutation in the uroporphyrinogen decarboxylase gene.

Authors:  J To-Figueras; J D Phillips; J M Gonzalez-López; C Badenas; I Madrigal; E M González-Romarís; C Ramos; J M Aguirre; C Herrero
Journal:  Br J Dermatol       Date:  2011-08-18       Impact factor: 9.302

4.  Enzymatic and immunological studies of uroporphyrinogen decarboxylase in familial porphyria cutanea tarda and hepatoerythropoietic porphyria.

Authors:  H de Verneuil; C Beaumont; J C Deybach; Y Nordmann; Z Sfar; R Kastally
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

5.  Molecular analysis of uroporphyrinogen decarboxylase deficiency in a family with two cases of hepatoerythropoietic porphyria.

Authors:  H de Verneuil; B Grandchamp; P H Romeo; N Raich; C Beaumont; M Goossens; H Nicolas; Y Nordmann
Journal:  J Clin Invest       Date:  1986-02       Impact factor: 14.808

6.  Immunochemical study of uroporphyrinogen decarboxylase in a patient with mild hepatoerythropoietic porphyria.

Authors:  H Fujita; S Sassa; A C Toback; A Kappas
Journal:  J Clin Invest       Date:  1987-05       Impact factor: 14.808

  6 in total

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