Norio Sakai

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

Derralynn Hughes, Suma P. Shankar, Gere Sunder‐Plassmann et al. · Journal of Medical Genetics · 2016 · 370 citations · Full text

Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease

Norio Sakai, Koji Inui, N Tatsumi et al. · Journal of Neurochemistry · 1996 · 189 citations

A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II

Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai et al. · Molecular Therapy · 2020 · 159 citations · Full text

Immunology, Neurochemical Biomarkers, Pharmacotherapy +17

Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial

Torayuki Okuyama, Yoshikatsu Eto, Norio Sakai et al. · Molecular Therapy · 2018 · 150 citations · Full text

Phase 1/2, Translational Medicine, Autoimmune Disease +14

Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan

Akemi Tanaka, Torayuki Okuyama, Yasuyuki Suzuki et al. · Molecular Genetics and Metabolism · 2012 · 145 citations

Neuro-oncology, Brain Involvement, Hematology +10