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Archives of Pediatrics & Adolescent Medicine, 1961
Galactosemia is an inborn error of carbohydrate metabolism which results from the recessive inheritance of an enzymatic deficit in the metabolism of galactose. The disease is treatable and preventable by the elimination of all sources of galactose from the diet, particularly milk and milk products.
Joseph R. Christian, Eugene F. Diamond
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Galactosemia is an inborn error of carbohydrate metabolism which results from the recessive inheritance of an enzymatic deficit in the metabolism of galactose. The disease is treatable and preventable by the elimination of all sources of galactose from the diet, particularly milk and milk products.
Joseph R. Christian, Eugene F. Diamond
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Human Mutation, 1992
Classic galactosemia is an inborn error of galactose metabolism and results from deficiency of the ubiquitously expressed enzyme galactose-1-phosphate uridyltransferase (GALT). Nine missense mutations, three splicing mutations, three GALT protein polymorphisms, and one silent nucleotide substitution have been identified to date.
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Classic galactosemia is an inborn error of galactose metabolism and results from deficiency of the ubiquitously expressed enzyme galactose-1-phosphate uridyltransferase (GALT). Nine missense mutations, three splicing mutations, three GALT protein polymorphisms, and one silent nucleotide substitution have been identified to date.
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A molecular approach to galactosemia
European Journal of Pediatrics, 1995Classical galactosemia (G/G) is caused by the lack of galactose-1-phosphate uridyltransferase (GALT) activity. A more common clinical variant, Duarte/Classical (D/G) produces partial enzymatic impairment. Although neonatal death due to G/G galactosemia has been largely eliminated by population-based screening and intervention, long-term outcome in some
Elizabeth M. Paulk +4 more
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The Lens, Cataracts, and Galactosemia
New England Journal of Medicine, 1973Like the trunk of a tree, the lens grows throughout life by forming successive layers at its outer circumference. Older layers are thereby progressively displaced toward the center so that periods of unfavorable growth or transient metabolic disturbances may be permanently inscribed as deep-lying concentric rings.
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Galactosemia: screening and diagnosis
Clinical Biochemistry, 1991Galactose is normally metabolized to glucose through the coordinated activities of three enzymes: galactokinase, galactose-1-phosphate uridyl transferase (GALT), and uridine diphospho-glucose 4-epimerase (epimerase). High concentrations of galactose and their metabolites are toxic to mammals.
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Galactose metabolism and galactosemia
The American Journal of Medicine, 1959Abstract 1.1. Galactose forms an integral part of a number of biologically important compounds, such as cerebrosides, mucopolysaccharides and lactose. Most of the galactose present in these substances is not derived directly from ingested galactose but rather is synthesized from glucose and other precursors. 2.2. Ingested galactose after absorption
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Effects of galactosemia in utero
European Journal of Pediatrics, 1995There is direct evidence that in galactosemia, due to galactose-1-phosphate uridyltransferase deficiency, galactose, galactose-1-phosphate and galactitol accumulate in the fetus by week 20 of gestation. The metabolic abnormality may develop earlier than this, however, since the key enzymes in galactose metabolism have been shown to be present in normal
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Pediatric Clinics of North America, 1960
G N, DONNELL, W R, BERGREN, R S, CLELAND
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G N, DONNELL, W R, BERGREN, R S, CLELAND
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