Presentation Information
[P2-04-9]A case with neurodorsaloid lipofuscinosis type 8 that was difficult to diagnose despite multiple genetic tests
○Minami Ozawa1,2, Ohsuke Migita2,3, Maho Ogiwara2, Yoshihisa Yamano4,5, Noriko Miyake6, Naoki Shimizu1 (1.Department of Pediatrics,St. Marianna University School of Medicine, Kanagawa,Japan, 2.Department of Genetic Medicine,St. Marianna University School of Medicine, Kanagawa,Japan, 3.Department of Clinical Laboratory Medicine and Genetic Analysis,St. Marianna University School of Medicine, Kanagawa,Japan, 4.Genomic Medicine Promotion Center,St. Marianna University School of Medicine, Kanagawa,Japan, 5.Department of Neurology, St. Marianna University School of Medicine,St. Marianna University School of Medicine, Kanagawa,Japan, 6.Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan)