Literature DB >> 1164638

Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.

R W Pain, F W Welch, A J Woodroffe, D A Handley, W H Lockwood.   

Abstract

Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. Family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.

Entities:  

Mesh：

Year:  1975        PMID： 1164638      PMCID： PMC1674443          DOI： 10.1136/bmj.3.5984.621

Source DB:  PubMed          Journal:  Br Med J        ISSN： 0007-1447


  11 in total

1.  HEMATOLOGIC STUDIES ON ERYTHROPOIETIC PORPHYRIA: A NEW CASE WITH SEVERE HEMOLYSIS, CHRONIC THROMBOCYTOPENIA, AND FOLIC ACID DEFICIENCY.

Authors:  S GROSS
Journal:  Blood       Date:  1964-06       Impact factor: 22.113

2.  [GUNTHER'S CONGENITAL ERYTHROPOIETIC PORPHYRIA. REPORT ON 2 FAMILIES WITH INCLUSION OF CARRIERS].

Authors:  L HEILMEYER; R CLOTTEN; L KERP; H MERKER; C A PARRA; H P WETZEL
Journal:  Dtsch Med Wochenschr       Date:  1963-12-20       Impact factor: 0.628

3.  ERYTHROPOIETIC PORPHYRIA.

Authors:  J B CHATTERJEA
Journal:  Blood       Date:  1964-12       Impact factor: 22.113

4.  [Haematological aspects in a case of erythropoietic porphyria].

Authors:  S VARADI
Journal:  Br J Haematol       Date:  1958-07       Impact factor: 6.998

5.  Paper electrophoresis of urinary porphyrins.

Authors:  W H LOCKWOOD; J L DAVIES
Journal:  Clin Chim Acta       Date:  1962-05       Impact factor: 3.786

Review 6.  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

7.  [Congenital erythropoietic porphyria].

Authors:  H Simard; A Barry; B Villeneuve; C Petitclerc; R Garneau; J M Delâge
Journal:  Can Med Assoc J       Date:  1972-05-06       Impact factor: 8.262

8.  Family study in congenital erythropoietic porphyria.

Authors:  T Darocha; J Weremowicz; A Gregor
Journal:  S Afr Med J       Date:  1971-09-25

9.  The anaemia of erythropoietic prophyria with the description of the disease in an elderly patient.

Authors:  S Kramer; E Viljoen; A M Meyer; J Metz
Journal:  Br J Haematol       Date:  1965-11       Impact factor: 6.998

10.  Erythropoietic protoporphyria: evidence for multiple sites of excess protoporphyrin formation.

Authors:  P Scholnick; H S Marver; R Schmid
Journal:  J Clin Invest       Date:  1971-01       Impact factor: 14.808
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  3 in total

Review 1.  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

Review 2.  Congenital erythropoietic porphyria: Recent advances.

Authors:  Angelika L Erwin; Robert J Desnick
Journal:  Mol Genet Metab       Date:  2018-12-27       Impact factor: 4.797

3.  Adult-onset congenital erythropoietic porphyria (Günther's disease) presenting with thrombocytopenia.

Authors:  A Murphy; G Gibson; G H Elder; B A Otridge; G M Murphy
Journal:  J R Soc Med       Date:  1995-06       Impact factor: 5.344
  3 in total

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