Litcius/Paper detail

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

Nurun Nahar Borna, Yoshihito Kishita, Jiro Abe, Takuro Furukawa, Minako Ogawa‐Tominaga, Takuya Fushimi, Atsuko Imai‐Okazaki, Atsuhito Takeda, Akira Ohtake, Kei Murayama, Yasushi Okazaki

2020Brain15 citationsDOIOpen Access PDF

Topics & Concepts

Neurodevelopmental disorderMedicineNAD+ kinaseMutationGeneticsInternal medicinePsychologyPsychiatryEnzymeBiologyGeneBiochemistryAutismGenetics and Neurodevelopmental DisordersMetabolism and Genetic DisordersDiet and metabolism studies