Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
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DOI: 10.1186/s13023-018-0954-8
Abstract: BackgroundClassic 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.Many mutations in the GALT gene responsible for classic galactosemia have… read more here.
Keywords: galactosemia; effect; classic galactosemia; q188r mutation ... See more keywords