Galactosemias

Known as: disorder galactosemia, Galactose intolerance, galactosaemia 
A group of inherited enzyme deficiencies which feature elevations of GALACTOSE in the blood. This condition may be associated with deficiencies of… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1945-2018
0204019452017

Papers overview

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Review
2017
Review
2017
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by deficient activity of galactose-1-phosphate… (More)
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Highly Cited
2007
Highly Cited
2007
The proinflammatory cytokine, interleukin (IL)-1beta, is known to induce vascular dysfunction and cell death. We investigated the… (More)
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Highly Cited
2007
Highly Cited
2007
This report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of Europe… (More)
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Highly Cited
2004
Highly Cited
2004
Diabetic retinopathy is a leading cause of adult vision loss and blindness. Much of the retinal damage that characterizes the… (More)
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Highly Cited
2001
Highly Cited
2001
Antioxidants were administered to diabetic rats and experimentally galactosemic rats to evaluate the ability of these agents to… (More)
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Highly Cited
2000
Highly Cited
2000
PURPOSE To examine the relationship between early retinal capillary cell apoptosis and late histologic lesions of diabetic… (More)
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Highly Cited
1996
Highly Cited
1996
To reconstruct the mechanisms for the vasoobliteration that transforms diabetic retinopathy into an ischemic retinopathy, we… (More)
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Highly Cited
1994
Highly Cited
1994
PURPOSE Experimental galactosemia and diabetes are known to result in diabetic-like retinopathy in animals, but the mechanism by… (More)
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Highly Cited
1984
Highly Cited
1984
Six normal dogs were made galactosemic by feeding a 30% D-galactose diet, and were followed up to 5 yr. For comparison, 10 normal… (More)
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Highly Cited
1981
Highly Cited
1981
We evaluated gonadal function in 18 female and eight male patients with galactosemia due to transferase deficiency; it was normal… (More)
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