Literature DB >> 7250973

Gd(-) Muret and gd(-) Colomiers, two new variants of glucose-6-phosphate dehydrogenase associated with favism.

H Vergnes, A Ribet, G Bommelaer, J Amadieu, H Brun.   

Abstract

Two males subjects are described with hitherto undescribed glucose-6-phosphate dehydrogenase (G6PD) variants. The first is of French ancestry, the second of Sicilian extraction. Each subject suffered from acute hemolytic anemia following ingestion of broad beans (Vicia fava). In both cases the hemolytic crisis occurred in a late period of life (29 and 58 years). No previous hemolytic crisis was recorded. The electrophoretic and kinetic properties of the mutant enzymes examined after purification from the red cells allowed each to be distinguished from other G6PD variants reported until now. The first variant was named Gd(-) Muret, the other Gd(-) Colomiers.

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Year:  1981        PMID: 7250973     DOI: 10.1007/bf00278958

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  20 in total

1.  Glucose 6-phosphate dehydrogenase variants: Gd (+) Alexandra associated with neonatal jaundice and Gd (-) Camperdown in a young man with lamellar cataracts.

Authors:  J D Harley; N S Agar; A Yoshida
Journal:  J Lab Clin Med       Date:  1978-02

2.  [A new erythrocyte glucose-6-phosphate dehydrogenase-variant, type Frankfurt. I. Characterization of the variant by kinetical parameters (author's transl)].

Authors:  L Nowicki; S Strobel; H Martin; U Koschwitz
Journal:  Klin Wochenschr       Date:  1974-03-15

3.  Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.

Authors:  E Beutler; A Yoshida
Journal:  Ann Hum Genet       Date:  1973-10       Impact factor: 1.670

4.  Human glucose-6-phosphate dehydrogenase variants.

Authors:  A Yoshida; E Beutler; A G Motulsky
Journal:  Bull World Health Organ       Date:  1971       Impact factor: 9.408

5.  Biochemical variants of glucose-6-phosphate dehydrogenase giving rise to congenital nonspherocytic hemolytic disease.

Authors:  E Beutler; C K Mathai; J E Smith
Journal:  Blood       Date:  1968-02       Impact factor: 22.113

6.  Human glucose-6-phosphate dehydrogenase variants: a supplementary tabulation.

Authors:  A Yoshida; E Beutler
Journal:  Ann Hum Genet       Date:  1978-01       Impact factor: 1.670

7.  G6PD San Jose: a new variant characterized by NADPH inhibition studies.

Authors:  G A Castro; L M Snyder
Journal:  Humangenetik       Date:  1974-03-28

8.  Glucose-6-phosphate dehydrogenase deficiency in Sicily. Incidence, biochemical characteristics and clinical implications.

Authors:  G Schiliro; A Russo; R Curreri; S Marino; A Sciotto; G Russo
Journal:  Clin Genet       Date:  1979-02       Impact factor: 4.438

9.  Variants of glucose-6-phosphate dehydrogenase (G-6-PD) associated with G-6-PD deficiency in Puerto Ricans.

Authors:  P R McCurdy; N Maldonado; D E Dillon; M E Conrad
Journal:  J Lab Clin Med       Date:  1973-09

10.  Hemolytic anemia and G6PD deficiency.

Authors:  A Yoshida
Journal:  Science       Date:  1973-02-09       Impact factor: 47.728

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  1 in total

1.  Three new G6PD variants, G6PD Adana, G6PD Samandağ, and G6PD Balcali in Cukurova, Turkey.

Authors:  K Aksoy; G T Yüregir; N Dikmen; I Unlükurt
Journal:  Hum Genet       Date:  1987-06       Impact factor: 4.132

  1 in total

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