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Gene, ISSN 0378-1119, 09/2016, Volume 589, Issue 2, pp. 133 - 141
Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by von Ruess. The subsequent 100years has seen considerable progress in... 
Galactokinase | Inherited metabolic disease | Leloir pathway | UDP-galactose 4′-epimerase | Galactose 1-phosphate uridylyltransferase | UDP-galactose 4 '-epimerase | N-ACETYLGALACTOSAMINE KINASE | GALT PROTEIN DATABASE | URIDINE-DIPHOSPHATE GALACTOSE-4-EPIMERASE | EPIMERASE-DEFICIENCY GALACTOSEMIA | TUMOR-SUPPRESSOR GENE | HUMAN GALACTOSE-1-PHOSPHATE URIDYLYLTRANSFERASE | DISEASE-CAUSING MUTATIONS | DROSOPHILA-MELANOGASTER MODEL | O-LINKED GLYCOSYLATION | GENETICS & HEREDITY | HUMAN GALACTOKINASE INHIBITORS | Galactose - metabolism | UTP-Hexose-1-Phosphate Uridylyltransferase - genetics | History, 21st Century | Humans | Molecular Chaperones - therapeutic use | Galactokinase - genetics | Galactosemias - genetics | UDPglucose 4-Epimerase - genetics | Protein Folding - drug effects | Galactokinase - chemistry | Gene Expression | UTP-Hexose-1-Phosphate Uridylyltransferase - chemistry | History, 20th Century | Galactosemias - history | UDPglucose 4-Epimerase - chemistry | Chromosome Mapping | Galactosemias - drug therapy | Proteasome Inhibitors - therapeutic use | Galactosemias - classification | Antioxidants - therapeutic use | Galactokinase - metabolism | Oxidative Stress - drug effects | Genome, Human | UDPglucose 4-Epimerase - metabolism | UTP-Hexose-1-Phosphate Uridylyltransferase - metabolism | Physiological aspects | Enzymes | Galactose | Analysis | Index Medicus
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 10/2014, Volume 22, Issue 10, pp. 1172 - 1179
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Journal Article