Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome by Takuya Hiraide, Taiju Hayashi, Taiju Hayashi, Yusuke Ito, Rei Urushibata, Hiroshi Uchida, Ryoichi Kitagata, Hidetoshi Ishigaki, Tsutomu Ogata, Tsutomu Ogata, Tsutomu Ogata, Hirotomo Saitsu, Tokiko Fukuda, Tokiko Fukuda

Get full text

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review by Hiroyuki Iijima, Reiko Iwano, Yukichi Tanaka, Koji Muroya, Tokiko Fukuda, Hideo Sugie, Kenji Kurosawa, Masanori Adachi

Get full text

Three Cases of Hemiconvulsion-Hemiplegia-Epilepsy Syndrome With Focal Cortical Dysplasia Type IIId by Shinji Itamura, Tohru Okanishi, Yoshifumi Arai, Mitsuyo Nishimura, Shimpei Baba, Naoki Ichikawa, Yoshimichi Hirayama, Naoko Ishihara, Takuya Hiraide, Hidetoshi Ishigaki, Tokiko Fukuda, Yoshiro Otsuki, Hideo Enoki, Ayataka Fujimoto

Get full text

Two cases of a non-progressive hepatic form of glycogen storage disease type IV with atypical liver pathology by Keiko Ichimoto, Tomoo Fujisawa, Masaru Shimura, Takuya Fushimi, Makiko Tajika, Ayako Matsunaga, Minako Ogawa-Tominaga, Nana Akiyama, Yuki Naruke, Hiroshi Horie, Tokiko Fukuda, Hideo Sugie, Ayano Inui, Kei Murayama

Get full text

OTUD5 Variants Associated With X-Linked Intellectual Disability and Congenital Malformation by Ken Saida, Tokiko Fukuda, Daryl A. Scott, Daryl A. Scott, Daryl A. Scott, Toru Sengoku, Kazuhiro Ogata, Annarita Nicosia, Annarita Nicosia, Andres Hernandez-Garcia, Seema R. Lalani, Seema R. Lalani, Mahshid S. Azamian, Haley Streff, Haley Streff, Pengfei Liu, Pengfei Liu, Hongzheng Dai, Hongzheng Dai, Takeshi Mizuguchi, Satoko Miyatake, Miki Asahina, Tsutomu Ogata, Noriko Miyake, Naomichi Matsumoto

Get full text