Associated Papers
Galactose epimerase deficiency: lessons from the GalNet registry.
Derks B et al.
Orphanet Journal of Rare Diseases, 2022
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Kumar SU et al.
Cell Biochemistry and Biophysics, 2021
Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.
Li Y et al.
Clinical Chemistry, 2014
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
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