Associated Papers
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Wen W et al.
Journal of Medical Genetics, 2024
38724173 (PubMed )
Supplement: jmg-2023-109667supp006.xlsx › Sheet1
GALE variants associated with syndromic manifestations, macrothrombocytopenia, bleeding, and platelet dysfunction.
Marín-Quílez A et al.
Platelets, 2023
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
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
Multiplex enzyme assay for galactosemia using ultraperformance liquid chromatography-tandem mass spectrometry.
Ko DH et al.
Clinical Chemistry, 2010
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Bang YL et al.
The Febs Journal, 2009
The structural and molecular biology of type III galactosemia.
Timson DJ
Iubmb Life, 2006
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Park HD et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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