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CO168 Adaptive Behaviors Over Time in Children and Young Adults With Classic Galactosemia

Value in health, 2022-12, Vol.25 (12), p.S50-S50

2022

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Crystallographic Evidence for Tyr 157 Functioning as the Active Site Base in Human UDP−Galactose 4-Epimerase

Biochemistry (Easton), 2000-05, Vol.39 (19), p.5691-5701

2000

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Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast

Molecular genetics and metabolism, 2004-09, Vol.83 (1), p.103-116

2004

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Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site

The Journal of biological chemistry, 2001-05, Vol.276 (18), p.15131-15136

2001

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Epimerase-Deficiency Galactosemia Is Not a Binary Condition

American journal of human genetics, 2006-01, Vol.78 (1), p.89-102

2006

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A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia

Clinical genetics, 2001-11, Vol.60 (5), p.350-355

2001

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Relationship between UDP-Galactose 4′-Epimerase Activity and Galactose Sensitivity in Yeast

The Journal of biological chemistry, 2006-03, Vol.281 (13), p.8443-8449

2006

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

The Journal of biological chemistry, 2004-07, Vol.279 (31), p.32796-32803

2004

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Scp160p associates with specific mRNAs in yeast

Nucleic acids research, 2003-04, Vol.31 (7), p.1830-1837

2003

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

The Journal of biological chemistry, 2002-07, Vol.277 (30), p.27528-27534

2002

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Mediators of Galactose Sensitivity in UDP-Galactose 4′-Epimerase-impaired Mammalian Cells

The Journal of biological chemistry, 2005-04, Vol.280 (14), p.13493-13502

2005

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Relationship between Genotype, Activity, and Galactose Sensitivity in Yeast Expressing Patient Alleles of Human Galactose-1-phosphate Uridylyltransferase

The Journal of biological chemistry, 2001-04, Vol.276 (14), p.10634-10640

2001

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Scp160p, a multiple KH-domain protein, is a component of mRNP complexes in yeast

Nucleic acids research, 2000-04, Vol.28 (7), p.1576-1584

2000

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Genetic and biochemical interactions between SCP160 and EAP1 in yeast

Nucleic acids research, 2003-10, Vol.31 (20), p.5838-5847

2003

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

Molecular genetics and metabolism, 2005, Vol.84 (1), p.32-38

2005

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Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemia

Journal of inherited metabolic disease, 2000-11, Vol.23 (7), p.713-729

2000

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Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

American journal of human genetics, 1999-02, Vol.64 (2), p.462-470

1999

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Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase

The Journal of biological chemistry, 2001-06, Vol.276 (23), p.20617-20623

2001

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The brefeldin A resistance protein Bfr1p is a component of polyribosome-associated mRNP complexes in yeast

Nucleic acids research, 2001-06, Vol.29 (12), p.2567-2574

2001

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Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast

Nucleic acids research, 2004-01, Vol.32 (16), p.4768-4775

2004

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Covalent Heterogeneity of the Human Enzyme Galactose-1-phosphate Uridylyltransferase

The Journal of biological chemistry, 2000-09, Vol.275 (39), p.30088-30091

2000

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Subcellular Localization of Galactose-1-phosphate Uridylyltransferase in the Yeast Saccharomyces cerevisiae

Molecular genetics and metabolism, 2000-08, Vol.70 (4), p.272-280

2000

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Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

American journal of human genetics, 1995-03, Vol.56 (3), p.630-639

1995

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Functional Consequence of Substitutions at Residue 171 in Human Galactose-1-phosphate Uridylyltransferase

The Journal of biological chemistry, 2000-07, Vol.275 (30), p.22847-22853

2000

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Down-regulation of tumor necrosis factor expression by pentoxifylline in cancer patients: a pilot study

Cancer Immunology Immunotherapy, 1993, Vol.36 (1), p.57-60

1993

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CO168 Adaptive Behaviors Over Time in Children and Young Adults With Classic Galactosemia

Crystallographic Evidence for Tyr 157 Functioning as the Active Site Base in Human UDP−Galactose 4-Epimerase

Differential roles of the Leloir pathway enzymes and metabolites in defining galactose sensitivity in yeast

Human UDP-galactose 4-epimerase. Accommodation of UDP-N-acetylglucosamine within the active site

Epimerase-Deficiency Galactosemia Is Not a Binary Condition

A PCR-based method for detecting known mutations in the human UDP galactose-4′-epimerase gene associated with epimerase-deficiency galactosemia

Relationship between UDP-Galactose 4′-Epimerase Activity and Galactose Sensitivity in Yeast

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

Scp160p associates with specific mRNAs in yeast

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

Mediators of Galactose Sensitivity in UDP-Galactose 4′-Epimerase-impaired Mammalian Cells

Relationship between Genotype, Activity, and Galactose Sensitivity in Yeast Expressing Patient Alleles of Human Galactose-1-phosphate Uridylyltransferase

Scp160p, a multiple KH-domain protein, is a component of mRNP complexes in yeast

Genetic and biochemical interactions between SCP160 and EAP1 in yeast

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

Studies of the V94M‐substituted human UDPgalactose‐4‐epimerase enzyme associated with generalized epimerase‐deficiency galactosaemia

Identification and Characterization of a Mutation, in the Human UDP-Galactose-4-Epimerase Gene, Associated with Generalized Epimerase-Deficiency Galactosemia

Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase

The brefeldin A resistance protein Bfr1p is a component of polyribosome-associated mRNP complexes in yeast

Both KH and non-KH domain sequences are required for polyribosome association of Scp160p in yeast

Covalent Heterogeneity of the Human Enzyme Galactose-1-phosphate Uridylyltransferase

Subcellular Localization of Galactose-1-phosphate Uridylyltransferase in the Yeast Saccharomyces cerevisiae

Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes

Functional Consequence of Substitutions at Residue 171 in Human Galactose-1-phosphate Uridylyltransferase

Down-regulation of tumor necrosis factor expression by pentoxifylline in cancer patients: a pilot study

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