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Lista de obras de 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

artículo científico publicado en 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 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

artículo científico publicado en 2019

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

artículo científico publicado en 2005

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

artículo científico publicado en 2017

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2002

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