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Judith L Fridovich-Keil Selected Research

Uridine Diphosphate Galactose (UDP Galactose)

5/2014Liquid chromatography-tandem mass spectrometry enzyme assay for UDP-galactose 4'-epimerase: use of fragment intensity ratio in differentiation of structural isomers.
1/2013A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.
10/2012Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
10/2011In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
1/2006Epimerase-deficiency galactosemia is not a binary condition.
1/2005Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.

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Judith L Fridovich-Keil Research Topics

Disease

33Galactosemias (Galactosemia)
01/2020 - 08/2002
3Inborn Genetic Diseases (Disease, Hereditary)
06/2015 - 08/2013
1Cataract (Cataracts)
01/2021
1Asymptomatic Diseases
05/2009

Drug/Important Bio-Agent (IBA)

22Galactose (Galactopyranose)FDA LinkGeneric
01/2021 - 04/2005
13EnzymesIBA
01/2020 - 08/2002
8galactose-1-phosphateIBA
01/2020 - 05/2009
6Uridine Diphosphate Galactose (UDP Galactose)IBA
05/2014 - 01/2005
2Reactive Oxygen Species (Oxygen Radicals)IBA
05/2014 - 01/2013
2Hormones (Hormone)IBA
08/2011 - 07/2009
1ManganeseIBA
05/2014
1Superoxide DismutaseIBA
05/2014
1AntralIBA
07/2013
1UDPglucose 4-Epimerase (UDP Galactose Epimerase)IBA
10/2012
1LipidsIBA
08/2012
1Blood Proteins (Serum Proteins)IBA
08/2012
1Glycoproteins (Glycoprotein)IBA
08/2012
1Proteins (Proteins, Gene)FDA Link
08/2012
1Biomarkers (Surrogate Marker)IBA
07/2009
1CarbonIBA
02/2008
1Racemases and Epimerases (Epimerases and Racemases)IBA
04/2005

Therapy/Procedure

5Diet Therapy (Therapy, Diet)
01/2019 - 04/2011
2Therapeutics
07/2009 - 04/2005