Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient.

Manor J, Calame DG, Gijavanekar C, Tran A, Fatih JM, Lalani SR, Mizerik E, Parnes M, Mehta VP, Adesina AM, Lupski JR, Scaglia F, Elsea SH.