Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers.
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DOI: 10.1016/j.ymgme.2018.03.012
Abstract: All States screen for biotinidase deficiency and galactosemia, and X-linked adrenoleukodystrophy (X-ALD) has recently been added to the Recommended Uniform Screening Panel (RUSP).We sought to consolidate these tests by combining them into a single multiplex… read more here.
Keywords: mass spectrometry; galactosemia; biotinidase deficiency; deficiency galactosemia ... See more keywords