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

Joshua Manor Daniel G CalameCharul GijavanekarAlyssa TranJawid M FatihSeema R LalaniElizabeth MizerikMered ParnesVidya P MehtaAdekunle M AdesinaJames R LupskiFernando ScagliaSarah H Elsea

Published in: Brain : a journal of neurology (2022)

Keyphrases

case report
mesenchymal stem cells
wild type
replacement therapy