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Journal of Inherited Metabolic Disease|July 12, 2017
Rigor of non-dairy galactose restriction in early childhood, measured by retrospective survey, does not associate with severity of five long-term outcomes quantified in 231 children and adults with classic galactosemiaAllison B Frederick, David J Cutler, Judith L Fridovich-KeilJournal of Inherited Metabolic Disease|September 4, 2020
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT-null rat pupsShauna A Rasmussen, Jennifer M I Daenzer, Judith L Fridovich-KeilJournal of Inherited Metabolic Disease|July 3, 2024
Restoring galactose metabolism without restoring GALT rescues both compromised survival in larvae and an adult climbing deficit in a GALT-null D. Melanogaster model of classic galactosemiaJennifer M I Daenzer, Jared J Druss, Judith L Fridovich-KeilDisease Models & Mechanisms|June 28, 2012
Mediators of a long-term movement abnormality in a Drosophila melanogaster model of classic galactosemiaEmily L Ryan, Brian DuBoff, Mel B Feany, et al.Plos One|July 20, 2022
DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3'-diaminobenzidine (DAB)Sneh Patel, Sara Fridovich-Keil, Shauna A Rasmussen, et al.Biochimica Et Biophysica Acta|April 16, 2013
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemiaThomas J McCorvie, Tyler J Gleason, Judith L Fridovich-Keil, et al.The Journal of Biological Chemistry|May 23, 2002
Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricksJames B Thoden, Jenny M Henderson, Judith L Fridovich-Keil, et al.Plos Genetics|June 2, 2012
UDP-galactose 4'-epimerase activities toward UDP-Gal and UDP-GalNAc play different roles in the development of Drosophila melanogasterJennifer M I Daenzer, Rebecca D Sanders, Darwin Hang, et al.JIMD Reports|July 2, 2016
Gastrointestinal Health in Classic GalactosemiaKelly A Shaw, Jennifer G Mulle, Michael P Epstein, et al.JIMD Reports|April 11, 2014
Newborn screening for galactosemia in the United States: looking back, looking around, and looking aheadBrook M Pyhtila, Kelly A Shaw, Samantha E Neumann, et al.Pageof 7