Norio Sakai
Chiba University Hospital(JP)JR Tokyo General Hospital(JP)The University of Osaka(JP)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Trypanosoma species research and implications, Carbohydrate Chemistry and Synthesis, Glycogen Storage Diseases and Myoclonus, Cellular transport and secretion
Most-Cited Works
- → Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study(2016)380 cited
- → Molecular Cloning and Expression of cDNA for Murine Galactocerebrosidase and Mutation Analysis of the Twitcher Mouse, a Model of Krabbe's Disease(1996)189 cited
- → A Phase 2/3 Trial of Pabinafusp Alfa, IDS Fused with Anti-Human Transferrin Receptor Antibody, Targeting Neurodegeneration in MPS-II(2020)161 cited
- → Iduronate-2-Sulfatase with Anti-human Transferrin Receptor Antibody for Neuropathic Mucopolysaccharidosis II: A Phase 1/2 Trial(2018)151 cited
- → Long-term efficacy of hematopoietic stem cell transplantation on brain involvement in patients with mucopolysaccharidosis type II: A nationwide survey in Japan(2012)145 cited
- → The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity