Literature DB >> 2246853

Coexistent hereditary coproporphyria and congenital erythropoietic porphyria (Günther disease).

Y Nordmann1, D Amram, J C Deybach, L N Phung, D Lesbros.   

Abstract

We present data on one patient with an inheritance pattern for two porphyrias. From her mother she inherited the trait of hereditary coproporphyria; from both parents she inherited the trait of congenital erythropoietic porphyria (Günther disease). Enzyme studies confirmed this new type of dual porphyria.

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Year:  1990        PMID： 2246853     DOI： 10.1007/bf01799568

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


  11 in total

1.  Porphyria variegata and porphyria cutanea tarda in siblings: chemical and genetic aspects.

Authors:  C J Watson; R A Cardinal; I Bossenmaier; Z J Petryka
Journal:  Proc Natl Acad Sci U S A       Date:  1975-12       Impact factor: 11.205

2.  New form of dual porphyria: coexistent acute intermittent porphyria and porphyria cutanea tarda.

Authors:  M O Doss
Journal:  Eur J Clin Invest       Date:  1989-02       Impact factor: 4.686

3.  Enzymatic properties of uroporphyrinogen 3 cosynthetase.

Authors:  E Y Levin
Journal:  Biochemistry       Date:  1971-12-07       Impact factor: 3.162

4.  Harderoporphyrin coproporphyria.

Authors:  M Doss; R von Tiepermann; W Köpp
Journal:  Lancet       Date:  1984-02-04       Impact factor: 79.321

5.  Chester porphyria: biochemical studies of a new form of acute porphyria.

Authors:  K E McColl; G G Thompson; M R Moore; A Goldberg; S E Church; M R Qadiri; G R Youngs
Journal:  Lancet       Date:  1985-10-12       Impact factor: 79.321

6.  Harderoporphyria: a variant hereditary coproporphyria.

Authors:  Y Nordmann; B Grandchamp; H de Verneuil; L Phung; B Cartigny; G Fontaine
Journal:  J Clin Invest       Date:  1983-09       Impact factor: 14.808

7.  Coexistent variegate porphyria and porphyria cutanea tarda.

Authors:  R S Day; L Eales; D Meissner
Journal:  N Engl J Med       Date:  1982-07-01       Impact factor: 91.245

8.  Coproporphyrinogen III oxidase assay.

Authors:  B Grandchamp; Y Nordmann
Journal:  Enzyme       Date:  1982

9.  A radiochemical method for the measurement of coproporphyrinogen oxidase and the utilization of substrates other than coproporphyrinogen III by the enzyme from rat liver.

Authors:  G H Elder; J O Evans
Journal:  Biochem J       Date:  1978-01-01       Impact factor: 3.857

10.  Separation of porphyrin isomers by high-performance liquid chromatography.

Authors:  C K Lim; J M Rideout; D J Wright
Journal:  Biochem J       Date:  1983-05-01       Impact factor: 3.857
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  2 in total

1.  A novel point mutation in congenital erythropoietic porphyria in two members of Japanese family.

Authors:  K Tanigawa; M Bensidhoum; N Takamura; H Namba; S Yamashita; H de Verneuil; C Ged
Journal:  Hum Genet       Date:  1996-05       Impact factor: 4.132

Review 2.  [Hepatic porphyrias and alcohol].

Authors:  M O Doss; A Kühnel; U Gross; I Sieg
Journal:  Med Klin (Munich)       Date:  1999-06-15
  2 in total

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