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Cataract
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Cataract
[Early childhood cataract in hereditary UDP-galactose-4-epimerase deficiency--a case report]
Cysts
Mutation of a UDP-glucose-4-epimerase alters nematode susceptibility and ethylene responses in Arabidopsis roots.
Down Syndrome
UDP-galactose-4-epimerase in a boy with a trisomy 21.
Fanconi Syndrome
Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.
galactokinase deficiency
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Galactosemias
A Case Study of Monozygotic Twins Apparently Homozygous for a Novel Variant of UDP-Galactose 4'-epimerase (GALE) : A Complex Case of Variant GALE.
Galactosemias
A new mass screening method of detecting UDP-galactose-4-epimerase deficiency.
Galactosemias
A specific enzymatic assay for the diagnosis of congenital galactosemia. II. The combined test with 4-epimerase.
Galactosemias
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: Implications for type III galactosemia.
Galactosemias
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Galactosemias
Characterization of two mutations associated with epimerase-deficiency galactosemia, by use of a yeast expression system for human UDP-galactose-4-epimerase.
Galactosemias
Coordinated movement, neuromuscular synaptogenesis and trans-synaptic signaling defects in Drosophila galactosemia models.
Galactosemias
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program.
Galactosemias
Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
Galactosemias
Epimerase-deficiency galactosemia is not a binary condition.
Galactosemias
Functional analysis of mutations in UDP-galactose-4-epimerase (GALE) associated with galactosemia in Korean patients using mammalian GALE-null cells.
Galactosemias
Functional characterization of the K257R and G319E-hGALE alleles found in patients with ostensibly peripheral epimerase deficiency galactosemia.
Galactosemias
Galactose Epimerase Deficiency: Expanding the Phenotype.
Galactosemias
Identification and characterization of a mutation, in the human UDP-galactose-4-epimerase gene, associated with generalized epimerase-deficiency galactosemia.
Galactosemias
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
Galactosemias
In vivo and in vitro function of human UDP-galactose 4'-epimerase variants.
Galactosemias
In vivo metabolism and UTP-depleting action of 2-deoxy-2-fluoro-D-galactose.
Galactosemias
Issues on universal screening for galactosemia.
Galactosemias
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
Galactosemias
Liquid Chromatography-Tandem Mass Spectrometry Enzyme Assay for UDP-Galactose 4'-Epimerase: Use of Fragment Intensity Ratio in Differentiation of Structural Isomers.
Galactosemias
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
Galactosemias
Molecular dynamics, residue network analysis, and cross-correlation matrix to characterize the deleterious missense mutations in GALE causing galactosemia III.
Galactosemias
Structure modeling and comparative genomics for epimerase enzyme (Gal10p).
Galactosemias
The metastability of human UDP-galactose 4'-epimerase (GALE) is increased by variants associated with type III galactosemia but decreased by substrate and cofactor binding.
Galactosemias
The molecular basis of galactosemia - Past, present and future.
Galactosemias
The molecular basis of UDP-galactose-4-epimerase (GALE) deficiency galactosemia in Korean patients.
Galactosemias
The structural and molecular biology of type III galactosemia.
Galactosemias
[Effectiveness of the screening programme for galactosemia. New strategy in Poland]
Galactosemias
[UDP-galactose-4-epimerase deficiency]
Genetic Diseases, Inborn
Analysis of UDP-galactose 4'-epimerase mutations associated with the intermediate form of type III galactosaemia.
Genetic Diseases, Inborn
Assessment of galactose-1-phosphate uridyltransferase activity in cells and tissues.
Genetic Diseases, Inborn
The structural and molecular biology of type III galactosemia.
Infections
Brucella melitensis 16M: characterisation of the galE gene and mouse immunisation studies with a galE deficient mutant.
Infections
Developmental defects in a Caenorhabditis elegans model for type III galactosemia.
Infections
Schistosoma Japonicum UDP-Glucose 4-Epimerase Protein Is Located on the Tegument and Induces Moderate Protection against Challenge Infection.
Liver Failure
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Muscle Hypotonia
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
Neoplasms
Carbon Source Affects Synthesis, Structures, and Activities of Mycelial Polysaccharides from Medicinal Fungus Inonotus obliquus.
Neoplasms
DNA sequence-dependent variation in nucleosome structure, stability, and dynamics detected by a FRET-based analysis.
Neoplasms
Metabolic inhibition of mammalian uridine diphosphate galactose 4-epimerase in cell cultures and in tumor cells.
Neoplasms
Sequence-dependent nucleosome structure and stability variations detected by Förster resonance energy transfer.
Neoplasms
Sequence-dependent variations associated with H2A/H2B depletion of nucleosomes.
Osteoarthritis
The critical role of UDP-galactose-4-epimerase in osteoarthritis: modulating proteoglycans synthesis of the articular chondrocytes.
Starvation
Functional complementation of a membrane transport deficiency in Saccharomyces cerevisiae by recombinant ND4 fusion protein.
Starvation
Galactose starvation in a bloodstream form Trypanosoma brucei UDP-glucose 4'-epimerase conditional null mutant.
Stomach Neoplasms
Overexpression of UDP-Glucose 4-Epimerase Is Associated with Differentiation Grade of Gastric Cancer.
Thrombocytopenia
Inherited thrombocytopenia associated with mutation of UDP-galactose-4-epimerase (GALE).
Thrombocytopenia
Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.
Trypanosomiasis, African
The molecular dynamics of Trypanosoma brucei UDP-galactose 4'-epimerase: a drug target for African sleeping sickness.
Tuberculosis
Rv3634c from Mycobacterium tuberculosis H37Rv encodes an enzyme with UDP-Gal/Glc and UDP-GalNAc 4-epimerase activities.
udp-glucose 4-epimerase deficiency
A Case of UDP-Galactose 4'-Epimerase Deficiency Associated with Dyshematopoiesis and Atrioventricular Valve Malformations: An Exceptional Clinical Phenotype Explained by Altered N-Glycosylation with Relative Preservation of the Leloir Pathway.
udp-glucose 4-epimerase deficiency
A first case report of UDP-galactose-4'-epimerase deficiency in China: genotype and phenotype.
udp-glucose 4-epimerase deficiency
A new mass screening method of detecting UDP-galactose-4-epimerase deficiency.
udp-glucose 4-epimerase deficiency
A new method of screening for inherited disorders of galactose metabolism.
udp-glucose 4-epimerase deficiency
Detection of UDP-galactose-4-epimerase deficiency in a galactosemia screening program.
udp-glucose 4-epimerase deficiency
Laboratory diagnosis of galactosemia: a technical standard and guideline of the American College of Medical Genetics and Genomics (ACMG).
udp-glucose 4-epimerase deficiency
Molecular basis for severe epimerase deficiency galactosemia. X-ray structure of the human V94m-substituted UDP-galactose 4-epimerase.
udp-glucose 4-epimerase deficiency
Myelodysplasia and deficiency of uridine diphosphate-galactose 4-epimerase.
udp-glucose 4-epimerase deficiency
Reversal of UDP-galactose 4-epimerase deficiency of human leukocytes in culture.
udp-glucose 4-epimerase deficiency
Reversible defects in O-linked glycosylation and LDL receptor expression in a UDP-Gal/UDP-GalNAc 4-epimerase deficient mutant.
udp-glucose 4-epimerase deficiency
Uridine diphosphate galactose 4'-epimerase deficiency. IV. Report of eight cases in three families.
udp-glucose 4-epimerase deficiency
Uridine diphosphate galactose 4-epimerase deficiency.
udp-glucose 4-epimerase deficiency
Uridine diphosphate galactose 4-epimerase deficiency. II. Clinical follow-up, biochemical studies and family investigation.
udp-glucose 4-epimerase deficiency
[UDP-galactose-4-epimerase deficiency]
Vaccinia
Expansion of the mammalian 3 beta-hydroxysteroid dehydrogenase/plant dihydroflavonol reductase superfamily to include a bacterial cholesterol dehydrogenase, a bacterial UDP-galactose-4-epimerase, and open reading frames in vaccinia virus and fish lymphocystis disease virus.
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5.1.3.2 UDP-glucose 4-epimerase
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The reliability class of the localization prediction ranges from 1 (very reliable) to 5 (not reliable). 
