Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
<h4>Background</h4> <p>Classic galactosemia is a rare genetic metabolic disease with an unmet treatment need. Current standard of care fails to prevent chronically-debilitating brain and gonadal complications.</p> <br/> <p>Many mutations in the GALT gene responsi...
| Main Authors: | , , , , , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
BioMed Central
2018
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