Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells
Author:
Publisher
Wiley
Subject
Cell Biology,Molecular Biology,Biochemistry
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1742-4658.2009.06922.x/fullpdf
Reference32 articles.
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2. Galactosemia: the good, the bad, and the unknown;Fridovich-Keil;J Cell Physiol,2006
3. Erythrocyte uridine diphosphate galactose-4-epimerase deficiency identified by newborn screening for galactosemia in the United States;Ng;Screening,1993
4. Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program;Misumi;Clin Chim Acta,1981
5. Generalised uridine diphosphate galactose-4-epimerase deficiency;Walter;Arch Dis Child,1999
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3. Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis;Blood;2023-01-26
4. Exploration of archaeal nucleotide sugar epimerases unveils a new and highly promiscuous GDP-Gal4E subgroup;Current Research in Biotechnology;2022
5. Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III;Cell Biochemistry and Biophysics;2021-02-08
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