Conflicts of Interest
Mutation analysis (Dr. Häberle and Ms. Rüfenacht) for cases 2 and 3 and functional testing of the four non-coding variants (Dr. Caldovic and Ms. Haskins) were supported by the Recordati Rare Diseases, Inc. that manufactures and sells NCG as Carbaglu® (carglumic acid), which is used for treatment of NAGS deficiency.