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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.
Review
1998
Review
1998
The fundamental importance of human galactose metabolism: lessons from genetics and biochemistry.
Review
1997
Review
1997
Natural history of soy allergy and/or intolerance in children, and clinical use of soy‐protein formulas
Atopic diseases of infants and children are common, debilitating, chronic and sometimes even life‐threatening. Several well… 
Review
1992
Review
1992
Allergenicity and nutritional adequacy of soy protein formulas.
Highly Cited
1991
Highly Cited
1991
Molecular basis of galactosemia: mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase.
We describe the molecular characterization of two mutations responsible for galactosemia, an inherited disorder of galatose… 
Highly Cited
1990
Highly Cited
1990
Diabetes-related histopathologies of the rat retina prevented with an aldose reductase inhibitor.
Highly Cited
1989
Highly Cited
1989
Galactose-1-phosphate uridyl transferase activity associated with age at menopause and reproductive history.
Review
1973
Review
1973
Galactose metabolism and its regulation.
Highly Cited
1970
Highly Cited
1970
Long-term Follow-up of Galactosaemia*
A study of 60 galactosaemic children was carried out in order to assess their physical and mental development on a galactose-low… 
Highly Cited
1960
Highly Cited
1960
The Value of Galactose Phosphate Determinations in the treatment of Galactosaemia
Hereditary galactosaemia is now known to be due to the deficiency of a single enzyme, galactose-lphosphate uridyl transferase… 
Highly Cited
1955
Highly Cited
1955
A Study of the Genetics of Galactosaemia
Galactose‐1‐phosphate uridyltransferase has been determined, by a manometric method, in the lysed erythrocytes of galactosaemic… 
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