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List of works by Judith L Fridovich-Keil

A galactose-1-phosphate uridylyltransferase-null rat model of classic galactosemia mimics relevant patient outcomes and reveals tissue-specific and longitudinal differences in galactose metabolism

scientific article published on 17 December 2019

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 pups

scientific article published on 03 September 2020

Acute and long-term outcomes in a Drosophila melanogaster model of classic galactosemia occur independently of galactose-1-phosphate accumulation.

scientific article published on 24 August 2016

DAB-quant: An open-source digital system for quantifying immunohistochemical staining with 3,3′-diaminobenzidine (DAB)

scientific article published on 20 July 2022

Determinants of function and substrate specificity in human UDP-galactose 4'-epimerase

scientific journal article

Developmental outcomes of children with Duarte galactosemia: exploring the bases of an apparent contradiction in the literature

scientific article published on 04 June 2019

Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia

scientific article

Low-level maternal exposure to nicotine associates with significant metabolic perturbations in second-trimester amniotic fluid

scientific article published on 28 July 2017

Metabolic perturbations in classic galactosemia beyond the Leloir pathway: Insights from an untargeted metabolomic study

scientific article published on 22 January 2019

Presentation, progression, and predictors of ovarian insufficiency in classic galactosemia

scientific article published on 02 May 2018

Structural analysis of the Y299C mutant of Escherichia coli UDP-galactose 4-epimerase. Teaching an old dog new tricks

scientific article

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