Katsuyuki Yokoi, Yoko Nakajima, Yuta Sudo, Tasuku Mariya, Rie Kawamura, Makiko Tsutsumi, Hidehito Inagaki, Tetsushi Yoshikawa, Tetsuya Ito, Hiroki Kurahashi. Maple syrup urine disease due to a paracentric inversion of chr 19 that disrupts BCKDHA: A case report. JIMD reports. 2022. 63. 6. 575-580
Elena Bonora, Sanjiban Chakrabarty, Georgios Kellaris, Makiko Tsutsumi, Francesca Bianco, Christian Bergamini, Farid Ullah, Federica Isidori, Irene Liparulo, Chiara Diquigiovanni, et al. Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2021. 144. 5. 1451-1466