Literature DB >> 6722030

Is hepatoerythropoietic porphyria a homozygous form of porphyria cutanea tarda? Inheritance of uroporphyrinogen decarboxylase deficiency in a Spanish family.

P Lazaro, R E de Salamanca, G H Elder, M L Villaseca, S Chinarro, G Jaqueti.   

Abstract

A patient with hepatoerythropoietic porphyria (HEP) is described. He was shown by a family study to be homozygous for a gene that causes greater than 95% suppression of erythrocyte uroporphyrinogen decarboxylase activity.

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Year:  1984        PMID： 6722030     DOI： 10.1111/j.1365-2133.1984.tb04687.x

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


  8 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

2.  Characterization of a new mutation (R292G) and a deletion at the human uroporphyrinogen decarboxylase locus in two patients with hepatoerythropoietic porphyria.

Authors:  H de Verneuil; F Bourgeois; F de Rooij; P D Siersema; J H Wilson; B Grandchamp; Y Nordmann
Journal:  Hum Genet       Date:  1992-07       Impact factor: 4.132

Review 3.  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

4.  Mouse uroporphyrinogen decarboxylase: cDNA cloning, expression, and mapping.

Authors:  C Wu; W Xu; C A Kozak; R J Desnick
Journal:  Mamm Genome       Date:  1996-05       Impact factor: 2.957

5.  Prevalence of the 281 (Gly----Glu) mutation in hepatoerythropoietic porphyria and porphyria cutanea tarda.

Authors:  H de Verneuil; J Hansen; C Picat; B Grandchamp; J Kushner; A Roberts; G Elder; Y Nordmann
Journal:  Hum Genet       Date:  1988-01       Impact factor: 4.132

6.  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

7.  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

8.  Hepatoerythropoietic porphyria precipitated by viral hepatitis.

Authors:  R J Hift; P N Meissner; G Todd
Journal:  Gut       Date:  1993-11       Impact factor: 23.059
  8 in total

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