NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness

Affiliations

• ¹ Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo 113-8421, Japan.
• ² Department of Paediatrics, Graduate School of Medicine, Hokkaido University, Kita-Ku, Sapporo 060-8638, Japan.
• ³ Department of Paediatrics, Asahikawa City Hospital, Asahikawa, Sapporo 078-8510, Japan.
• ⁴ Department of Metabolism, Chiba Children's Hospital, Midori-ku, Chiba 266-0007, Japan.
• ⁵ Medical Genomics Center: National Center for Global Health and Medicine, Shinjuku City, Tokyo 162-8655, Japan.
• ⁶ Department of Paediatrics, Graduate School of Medicine, Hokkaido University, Kita-Ku, Sapporo 060-8648, Japan.
• ⁷ Department of Paediatrics and Clinical Genomics, Faculty of Medicine, Saitama Medical University, Moroyama, Saitama 350-0495, Japan.
• ⁸ Center for Intractable Diseases, Saitama Medical University Hospital, Moroyama, Saitama 350-0495, Japan.
• ⁹ Laboratory for Comprehensive Genomic Analysis, RIKEN Center for Integrative Medical Sciences, Yokohama, Kanagawa 230-0045, Japan.