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Galactosemias

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

Related topics

Related topics

22 relations

Narrower (1)

Classical galactosemia
Congenital glucose-galactose malabsorptionDeficiency of galactokinaseGALACTOKINASEGalactose

Broader (3)

Enzyme Deficiencycongenital deficiencydisorder of carbohydrate metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Inhibition of Caspase-1/Interleukin-1β Signaling Prevents Degeneration of Retinal Capillaries in Diabetes and Galactosemia
The proinflammatory cytokine, interleukin (IL)-1β, is known to induce vascular dysfunction and cell death. We investigated the… 
Highly Cited
2007
Highly Cited
2007
Neonatal screening in Europe; the situation in 2004
SummaryThis report outlines the status of neonatal screening in Europe in 2004. Out of the 45 member states of the Council of… 
Highly Cited
2005
Highly Cited
2005
Long-term outcome in 134 patients with galactosaemia
In a retrospective study 134 galactosaemic patients, born between 1955 and 1989 in the Federal Republic of Germany were traced… 
Review
2004
Review
2004
Guideline for the Evaluation of Cholestatic Jaundice in Infants: Recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition
For the primary care provider, cholestatic jaundice in infancy, defined as jaundice caused by an elevated conjugated bilirubin… 
Highly Cited
2000
Highly Cited
2000
Response of capillary cell death to aminoguanidine predicts the development of retinopathy: comparison of diabetes and galactosemia.
PURPOSE To examine the relationship between early retinal capillary cell apoptosis and late histologic lesions of diabetic… 
Highly Cited
1983
Highly Cited
1983
Retinal capillaries: basement membrane thickening by galactosemia prevented with aldose reductase inhibitor.
A twofold thickening of capillary basement membranes of rat retinas resulting from dietary galactose was prevented by sorbinil… 
Highly Cited
1981
Highly Cited
1981
Hypergonadotropic hypogonadism in female patients with galactosemia.
We evaluated gonadal function in 18 female and eight male patients with galactosemia due to transferase deficiency; it was normal… 
Highly Cited
1972
Highly Cited
1972
Gene Therapy for Human Genetic Disease?
In our view, gene therapy may ameliorate some human genetic diseases in the future. For this reason, we believe that research… 
Highly Cited
1969
Highly Cited
1969
Disorders of galactose metabolism
Galactosaemia, in its generic sense, stems from a failure to metabolize galactose. The inability may be inherited and permanent… 
Highly Cited
1967
Highly Cited
1967
POLYOL ACCUMULATIONS IN NERVOUS TISSUE OF RATS WITH EXPERIMENTAL DIABETES AND GALACTOSAEMIA *
HERS (1960) showed that glucose is transformed to fructose by extracts from seminal vesicle and placenta, and that the first step… 
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