Results 111 to 120 of about 3,475 (159)
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Galactokinase Deficiency as a Cause of Cataracts
New England Journal of Medicine, 1973Abstract Galactokinase and galactose-1-phosphate uridyl transferase assays were carried out on blood samples from 210 persons in whom cataracts developed before the age of 40.
E, Beutler +6 more
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Galactokinase Activity in Patients with Idiopathic Cataracts
Ophthalmology, 1986Ninety-four consecutive patients admitted for elective cataract surgery were prospectively examined for erythrocyte galactokinase activity. The presumed etiology for the cataract was established by history and physical examination in 51 patients (21 were diabetic). The cataract was classified as idiopathic in 43 patients.
Michael J Elman
exaly +3 more sources
Functional studies of rat galactokinase
Journal of Biotechnology, 2009Galactokinase is an ATP-dependent enzyme that catalyzes the phosphorylation of galactose to form galactose-1-phosphate. The defect in human galactokinase can result in the disease of galactosemia. On the other hand, the control of galactose-1-phosphate production by inhibiting galactokinase is a potential therapy for another disease referred to as ...
Xiusheng, Chu +3 more
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Galactokinase deficiency and mental retardation
The Journal of Pediatrics, 1979Abstract: Mental retardation has been previously associated with galactosemia resulting from a deficiency in a different enzyme, galactose-1-phosphate uridyl transferase. Cataracts are normally symptomatic of galactosemia, and are caused by galactose toxicity. Both severely retarded patients with galactosemia had cataracts.
S, Segal, J Y, Rutman, G W, Frimpter
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Human Erythrocyte Galactokinase: A Population Survey
Human Heredity, 1982Erythrocyte galactokinase activity was measured in a random sample of 620 Italian individuals to estimate the frequency of the gene responsible for the form of galactosemia due to galactokinase deficiency. 3 individuals had an activity about one-half the normal value.
MAGNANI, MAURO +6 more
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Galactokinase Deficiency in Twins
Pediatrics, 1974The recent article by Olabiwonnu et al., reporting two new cases of galactokinase deficiency, deserves comment. The authors reported the results of serum and urine studies for galactose and galactose derivatives on their patients while on a "galactose-free diet." The urine galactose and galactitol levels were rather high.
James A. Monteleone +3 more
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Recurrent Sepsis With Deficiencies of C2 and Galactokinase
Archives of Pediatrics & Adolescent Medicine, 1984A 4-year-old girl with recurrent, severe bacterial infections and absence of both the second component of complement and galactokinase was investigated for immunodeficiency. The C2 deficiency (C2D) was diagnosed after four major pyogenic infections. Results of studies of cellular and humoral immunity were normal, as were polymorphonuclear leukocyte ...
M S, Borzy +4 more
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Galactokinase: Evidence for a New Racial Polymorphism
Science, 1972Activities of galactokinase and galactose-1-phosphate uridyltransferase in red cells were assayed in a mixed racial population of 645 pregnant women. The distribution of individual transferase activities for black subjects was the same as that for whites.
T A, Tedesco +3 more
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Some inferences from galactokinase deficiency
Pediatrics, 1974The observations made by Olambiwonnu et al. in this issue on twins with galactokinase deficiency raise several issues of practical importance. The first point, which is not new but cannot be too often reemphasized, is the necessity to use a chemical reducing method, such as the Clinitest® tablet, for routine screening of urines for sugars.
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