Addition of galactose‐1‐phosphate measurement enhances newborn screening for classical galactosemia
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DOI: 10.1002/jimd.12580
Abstract: Galactosemia is an inborn disorder of carbohydrate metabolism of which early detection can prevent severe illness. Although the assay for galactose‐1‐phosphate uridyltransferase (GALT) enzyme activity has been available since the 1960s, many issues prevented it… read more here.
Keywords: galactose phosphate; phosphate measurement; classical galactosemia; galactosemia ... See more keywords