Effect of genotype on galactose-1-phosphate in classic galactosemia patients.
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DOI: 10.1016/j.ymgme.2018.08.012
Abstract: Impaired activity of galactose-1-phosphate uridyltransferase (GALT) causes classic galactosemia (OMIM 230400), characterized by the accumulation of galactose-1-phosphate (GAL1P) in patients' red blood cells (RBCs). Our recent study demonstrated a correlation between RBC GAL1P and long-term… read more here.
Keywords: classic galactosemia; galt; galactosemia patients; galactose phosphate ... See more keywords