Newborn screening for carnitine palmitoyltransferase II deficiency using (C16+C18:1)/C2: Evaluation of additional indices for adequate sensitivity and lower false-positivity.
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DOI: 10.1016/j.ymgme.2017.07.011
Abstract: BACKGROUND Carnitine palmitoyltransferase (CPT) II deficiency is one of the most common forms of mitochondrial fatty acid oxidation disorder (FAOD). However, newborn screening (NBS) for this potentially fatal disease has not been established partly because… read more here.
Keywords: using c16; carnitine palmitoyltransferase; cpt deficiency; deficiency ... See more keywords