Associated Papers
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Febres-Aldana CA et al.
Molecular Syndromology, 2020
Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models.
Haskovic M et al.
Journal of Inherited Metabolic Disease, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
McCorvie TJ et al.
Gene, 2013
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
McCorvie TJ et al.
Biochimica Et Biophysica Acta, 2012
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
Epimerase-deficiency galactosemia is not a binary condition.
Openo KK et al.
American Journal of Human Genetics, 2006
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