Humangenetik. 1975;27(3):247-50.

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

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).

PMID:: 1150245; [PubMed - indexed for MEDLINE]

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Glucosephosphate Dehydrogenase

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GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects. [Hum Genet. 1976]
GD (--) Aachen, a new variant of deficient glucose-6-phosphate dehydrogenase. Clinical, genetic, biochemical aspects.
Kahn A, Esters A, Habedank M. Hum Genet. 1976 May 19; 32(2):171-80.
[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)]. [Nouv Rev Fr Hematol. 1975]
[Neo-natal hyperbilirubinemia and G-6-PD Ankara deficiency, a new enzymatic variant discovered in a Turkish family (author's transl)].
North ML, Kahn A, Messer KJ, Willard D, Boivin P. Nouv Rev Fr Hematol. 1975 Jul-Aug; 15(4):454-9.
'Gd(-) Hôtel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from Senegal. [Hum Genet. 1977]
'Gd(-) Hôtel Dieu': a new G-6PD variant with chronic hemolysis in a Negro patient from Senegal.
Kahn A, Dao C, Cottreau D, Bilski-Pasquier G. Hum Genet. 1977 Dec 23; 39(3):353-7.
Review Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects. [Curr Top Hematol. 1978]
Review Human erythrocyte glucose 6-phosphate dehydrogenase: structure and function in normal and mutant subjects.
Luzzatto L, Testa U. Curr Top Hematol. 1978; 1:1-70.
Review Clinical manifestations of variant G-6-PD enzymes. [Ann Clin Lab Sci. 1971]
Review Clinical manifestations of variant G-6-PD enzymes.
McCurdy PR. Ann Clin Lab Sci. 1971 Sep-Oct; 1(2):184-92.

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

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