Literature DB >> 7160841

G6PD-Puerto Limón: a new deficient variant of glucose-6-phosphate dehydrogenase associated with congenital nonspherocytic hemolytic anemia.

J Elizondo, G F Sáenz, C A Páez, M Ramón, M García, A Gutiérrez, M Estrada.   

Abstract

A new glucose-6-phosphate dehydrogenase (G6PD) variant with total deficiency associated with congenital nonspherocytic hemolytic anemia was found in a Costa Rican family. The study of the partially purified enzyme revealed thermal instability, increased G6P affinity, abnormal pH optimum, increased utilization of analogues, and a chromatographic behavior that differs from all the variants previously described. Thus, this new variant was designated G6PD Puerto Limón.

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Year:  1982        PMID： 7160841     DOI： 10.1007/bf00282295

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


  9 in total

1.  The methemoglobin reduction test for primaquine-type sensitivity of erythrocytes. A simplified procedure for detecting a specific hypersusceptibility to drug hemolysis.

Authors:  G J BREWER; A R TARLOV; A S ALVING
Journal:  JAMA       Date:  1962-05-05       Impact factor: 56.272

2.  Glucose 6-phosphate dehydrogenase of human erythrocytes. I. Purification and characterization of normal (B+) enzyme.

Authors:  A Yoshida
Journal:  J Biol Chem       Date:  1966-11-10       Impact factor: 5.157

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

Review 4.  Standardization of procedures for the study of glucose-6-phosphate dehydrogenase. Report of a WHO Scientific Group.

Authors: 
Journal:  World Health Organ Tech Rep Ser       Date:  1967

5.  A simple and rapid dye test for glucose-6-phosphate dehydrogenase deficiency for routine use.

Authors:  M D Sass; C J Caruso
Journal:  J Lab Clin Med       Date:  1970-09

Review 6.  Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects.

Authors:  L Luzzatto; U Testa
Journal:  Curr Top Hematol       Date:  1978

7.  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

Review 8.  Treatment of haemoglobinopathies and allied disorders. Report of a WHO Scientific Group.

Authors: 
Journal:  World Health Organ Tech Rep Ser       Date:  1972

9.  Genetic variants of human erythrocyte glucose 6-phosphate dehydrogenase: new variants in West Africa characterized by column chromatography.

Authors:  E A Usanga; U Bienzle; R Cancedda; F A Fasuan; O Ajayi; L Luzzatto
Journal:  Ann Hum Genet       Date:  1977-01       Impact factor: 1.670
  9 in total
  5 in total

1.  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

2.  Mutation analysis of glucose-6-phosphate dehydrogenase (G6PD) variants in Costa Rica.

Authors:  E Beutler; W Kuhl; G F Sáenz; W Rodríguez
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

Review 3.  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 4.  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

5.  Glucose-6-phosphate dehydrogenase deficiency among malaria patients of Honduras: a descriptive study of archival blood samples.

Authors:  Miguel Á Zúñiga; Rosa E Mejía; Ana L Sánchez; Wilfredo H Sosa-Ochoa; Gustavo A Fontecha
Journal:  Malar J       Date:  2015-08-07       Impact factor: 2.979
  5 in total

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