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Article

Functional and structural impact of the most prevalent missense mutations in classic galactosemia

23 Jun 2014

Abstract excerpt

Galactose-1-phosphate uridylyltransferase (GALT) is a key enzyme in galactose metabolism, particularly important in the neonatal period due to ingestion of galactose-containing milk. GALT deficiency results in the genetic disorder classic galactosemia, whose pathophysiology is still not fully elucidated. Whereas classic galactosemia has been hypothesized to result from GALT misfolding, a thorough...

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PMID: 25614870
DOI: 10.1002/mgg3.94

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