Literature DB >> 1150245

G-6PD "ankara". a new G-6PD variant with deficiency found in a Turkish family.

A Kahn, M L North, J Messer, P Boivin.   

Abstract

A new G-6PD varient with enzyme deficiency is described in a 7-month-old Turkish boy without any hemolytic manifestation, except neonatal hyperbilirubinemia. The main characteristics of this variant were the following: Severe enzyme deficiency in erythrocytes (8% of normal), fast starch-gel-electrophoretic mobility (110% of normal), increased Ki NADPH with respect to NADP+, slightly biphasic pH curve, enzyme instability, in vivo and in vitro, decreased molecular specific activity (58% of normal).

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Year:  1975        PMID: 1150245     DOI: 10.1007/bf00278353

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  8 in total

1.  A deficiency of glucose-6-phosphate dehydrogenase activity in erythrocytes from patients with favism.

Authors:  W H ZINKHAM; R E LENHARD; B CHILDS
Journal:  Bull Johns Hopkins Hosp       Date:  1958-04

2.  Glucose-6-phosphate dehydrogenase slow variant with deficiency in a Spanish family. Relationship with the Gd (minus) Seattle variant.

Authors:  A Kahn; J L Vives-Corrons; D Cottreau; P Boivin
Journal:  Biomedicine       Date:  1974-07

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.  Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency.

Authors:  A Kahn; D Cottreau; P Boivin
Journal:  Humangenetik       Date:  1974

6.  [Kinetic and thermodynamic study of erythrocyte glucose-6-phosphate dehydrogenase in humans. Application to 7 different variants in the negroid race].

Authors:  A Kahn; P Boivin; J Lagneau
Journal:  Biochimie       Date:  1972       Impact factor: 4.079

7.  [Congenital non spherocytic hemolytic anemia due to G-6PD deficiency: physiological and biochemical study of an unusual variant. Relationship to Benevento G-6PD].

Authors:  A Kahn; J Leger; P Boivin; D Hollard; J Hakim
Journal:  Biochimie       Date:  1973       Impact factor: 4.079

8.  Hemolytic anemia and G6PD deficiency.

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

  8 in total
  1 in total

1.  GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects.

Authors:  A Kahn; A Esters; M Habedank
Journal:  Hum Genet       Date:  1976-05-19       Impact factor: 4.132

  1 in total

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