Imaging of extrapontine myelinolysis preceding central pontine myelinolysis in a case of ornithine transcarbamylase deficiency with hyperammonaemia and hypokalaemia

por Tanaka, Yuya, Matsuki, Mitsuru, Furukawa, Rieko, Nakata, Waka, Sakurai, Yoshio, Ajihara, Sayaka, Kawano, Akiko, Mori, Harushi
Publicado 2022

Association between maternally inherited deafness, epilepsy, and intellectual disability and the m.12207G > A MT-TS2 pathogenic variant in a Japanese family

por Suzuki-Ajihara, Sayaka, Saito-Tsuruoka, Megumi, Harashima, Hiroko, Arai, Katsumi, Koide, Hiroyoshi, Yatsuka, Yukiko, Imai-Okazaki, Atsuko, Okazaki, Yasushi, Murayama, Kei, Numakura, Chikahiko, Akioka, Yuko, Ohtake, Akira
Publicado 2023