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Showing 1 to 2 of 2 for “"Galactosemia"”.
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Base editing of Galactose-1-Phosphate Uridylyl Transferase as a novel gene therapy approach to treat Q188R mutation in a cellular model of Classic Galactosemia
Classic Galactosemia (CG) is a rare genetic disorder represented by the inability to convert galactose to glucose. A mutation at the galactose-1-phosphate uridylyltransferase (GALT) enzyme coding gene halts galactose metabolism which leads to the accumulation of galactose-1-phosphate and …
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A Pilot Study of the Relation of Selected Nutritional Factors to Skeletal Age of Galactosemic Children
… was conducted in which twelve children with galactosemia were selected to determine if a correlation existed between the dietary intake of calories, protein, calcium and vitamin D, and the skeletal age of each child. The selected nutrients were compared with the Recommended Daily allowances …