Literature DB >> 1189910

Glucosephosphate isomerase deficiency in a Dutch family.

J P Van Biervliet.   

Abstract

A mentally retarded girl with severe hemolytic anemia due to glucosephosphate isomerase deficiency is described. The deficiency was detected in erythrocytes, leukocytes, thrombocytes, liver and muscle tissues. Besides the glucosephosphate isomerase deficiency, a glutathione instability of unknown origin was found in the erythrocytes of the propositus.

Entities:  

Mesh：

Year:  1975        PMID： 1189910     DOI： 10.1111/j.1651-2227.1975.tb03939.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN： 0001-656X


  6 in total

Review 1.  Advances in hereditary red cell enzyme anomalies.

Authors:  A Kahn; J C Kaplan; J C Dreyfus
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

Review 2.  Inherited glucosephosphate isomerase deficiency. A review of known variants and some aspects of the pathomechanism of the deficiency.

Authors:  H Arnold
Journal:  Blut       Date:  1979-12

3.  Clinical symptoms and biochemical properties of three new glucosephosphate isomerase variants.

Authors:  S W Eber; M Gahr; M Lakomek; G Prindull; W Schröter
Journal:  Blut       Date:  1986-07

4.  Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.

Authors:  A G Whitelaw; P A Rogers; D A Hopkinson; H Gordon; P M Emerson; J H Darley; C Reid; M A Crawfurd
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

5.  Molecular and functional anomalies in two new mutant glucose-phosphate-insomerase variants with enzyme deficiency and chronic hemolysis.

Authors:  A Kahn; H A Buc; R Girot; D Cottreau; C Griscelli
Journal:  Hum Genet       Date:  1978-02-16       Impact factor: 4.132

6.  Congenital nonspherocytic hemolytic anemia associated with glucosephosphate isomerase deficiency: variant Paderborn.

Authors:  W Schröter; W Tillmann
Journal:  Klin Wochenschr       Date:  1977-04-15
  6 in total

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