Literature DB >> 3967887

A new glucose-6-phosphate dehydrogenase variant, Gd(-) Tepic, characterized by moderate enzyme deficiency and mild episodes of hemolytic anemia.

R Lisker, R Pérez-Briceño, E Beutler.   

Abstract

A 16-year-old Mexican male of Japanese ancestry was found to have a new glucose-6-phosphate dehydrogenase (G-6-PD) deficient variant, named Gd(-) Tepic after the birthplace of the maternal grandmother. A younger brother was also affected and the two sisters were heterozygous. The mother, an obligatory heterozygote, did not show the abnormal variant and the possible explanation of this phenomenon is discussed. From the clinical standpoint, the propositus has had three mild hemolytic episodes while his siblings are so far asymptomatic.

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Year:  1985        PMID: 3967887     DOI: 10.1007/bf00295523

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


  14 in total

1.  VARIATION OF GLUCOSE-6-PHOSPHATE DEHYDROGENASE IN DIFFERENT POPULATIONS.

Authors:  I H PORTER; S H BOYER; E J WATSON-WILLIAMS; A ADAM; A SZEINBERG; M SINISCALCO
Journal:  Lancet       Date:  1964-04-25       Impact factor: 79.321

2.  Glucose-6-phosphate dehydrogenase Mexico. A new variant with enzyme deficiency, abnormal mobility, and absence of hemolysis.

Authors:  R Lisker; C Linares; A G Motulsky
Journal:  J Lab Clin Med       Date:  1972-05

3.  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

4.  [Federal District glucose-6-phosphate dehydrogenase Gd(-). A new variant associated with moderate enzyme deficiency and occasional hemolytic anemia].

Authors:  R Lisker; R Pérez-Briceño; V Ravé; A Yoshida
Journal:  Rev Invest Clin       Date:  1981 Apr-Jun       Impact factor: 1.451

5.  Glucose-6-phosphate dehydrogenase deficiency and abnormal hemoglobins in mexican newborns with jaundice.

Authors:  G Vaca; B Ibarra; A Hernández; N Olivares; C Medina; J Sánchez-Corona; C Wunsch; B Godínez; C Martínez-Basalo; J M Cantú
Journal:  Rev Invest Clin       Date:  1981 Jul-Sep       Impact factor: 1.451

6.  A variant glucose-6-phosphate dehydrogenase Gd(-) Chiapas associated with moderate enzyme deficiency and occasional hemolytic anemia.

Authors:  R Lisker; R P Briceno; L Agrilar; A Yoshida
Journal:  Hum Genet       Date:  1978-07-12       Impact factor: 4.132

7.  Glucose 6-phosphate dehydrogenase variants in Japan.

Authors:  S Miwa
Journal:  Hemoglobin       Date:  1980       Impact factor: 0.849

8.  Heterogeneity of red cell glucose-6-phosphate dehydrogenase (G-6-PD) deficiency in Egypt.

Authors:  P R McCurdy; K Kamel; O Selim
Journal:  J Lab Clin Med       Date:  1974-11

9.  Heterogeneity of "Mediterranean type" glucose-6-phosphate dehydrogenase (G6PD) deficiency in Spain and description of two new variants associated with favism.

Authors:  J L Vives Corrons; A Pujades
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

10.  G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia.

Authors:  G Vaca; B Ibarra; F Romero; N Olivares; J M Cantú; E Beutler
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

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  6 in total

1.  Medical Genetics and the First Studies of the Genetics of Populations in Mexico.

Authors:  Ana Barahona
Journal:  Genetics       Date:  2016-09       Impact factor: 4.562

2.  Somatic-cell selection is a major determinant of the blood-cell phenotype in heterozygotes for glucose-6-phosphate dehydrogenase mutations causing severe enzyme deficiency.

Authors:  S Filosa; N Giacometti; C Wangwei; D De Mattia; D Pagnini; F Alfinito; F Schettini; L Luzzatto; G Martini
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

3.  A new glucose-6-phosphate dehydrogenase variant with congenital nonspherocytic hemolytic anemia (G6PD Genova). Biochemical characterization and mosaicism expression in the heterozygote.

Authors:  G F Gaetani; S Galiano; C Melani; M Miglino; G L Forni; G Napoli; L Perrone; A M Ferraris
Journal:  Hum Genet       Date:  1990-03       Impact factor: 4.132

4.  Some Mexican glucose-6-phosphate dehydrogenase variants revisited.

Authors:  E Beutler; W Kuhl; E Ramirez; R Lisker
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132

Review 5.  Clinical complications of G6PD deficiency in Latin American and Caribbean populations: systematic review and implications for malaria elimination programmes.

Authors:  Wuelton M Monteiro; Gabriel P Franca; Gisely C Melo; Amanda L M Queiroz; Marcelo Brito; Henry M Peixoto; Maria Regina F Oliveira; Gustavo A S Romero; Quique Bassat; Marcus V G Lacerda
Journal:  Malar J       Date:  2014-02-25       Impact factor: 2.979

Review 6.  G6PD deficiency in Latin America: systematic review on prevalence and variants.

Authors:  Wuelton M Monteiro; Fernando F A Val; André M Siqueira; Gabriel P Franca; Vanderson S Sampaio; Gisely C Melo; Anne C G Almeida; Marcelo A M Brito; Henry M Peixoto; Douglas Fuller; Quique Bassat; Gustavo A S Romero; Oliveira Maria Regina F; Lacerda Marcus Vinícius G
Journal:  Mem Inst Oswaldo Cruz       Date:  2014-08-19       Impact factor: 2.743

  6 in total

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