Education
Ph.D., 2001, Gifu University School of Medicine
Research Interests
We are working on developing a registry and growth charts for patients with MPS IVA and are in pre-clinical trials for enzyme replacement therapy for patients affected by MPS IVA. We are also developing a bone targeting system for treatment of MPS disorders, substrate reudction therapy for MPSs, and gene therapy for MPS IVA. Other areas of interest are characterization of hyaluronidases, the molecular evolution of glycosaminoglycans and peptidoglycan receptor proteins, and chondroitin sulfate metabolism.
Recent Publications
  • Enzyme replacement therapy in newborn mucopolysaccharidosis IVA mice: Early treatment rescues bone lesions?
    Tomatsu S, Montano AM, et al. Mol Genet Metab. (2014) Jun 4 [Epub ahead of print].
  • Enzyme replacement therapy on hypophosphatasia mouse model.
    Oikawa H, Tomatsu S, et al. J Inherit Metab Dis. (2014) 37(2):309-317.
  • Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels.
    Dung VC, Tomatsu S, et al. Mol Genet Metab. (2013) 110(1-2):129-138.
  • Newborn screening and diagnosis of mucopolysaccharidoses.
    Tomatsu S, Fujii T et al. Mol Genet Metab. (2013) 110(1-2):42-53.
  • Newborn screening and diagnosis of mucopolysaccharidoses.
    Tomatsu S, Fujii T et al. Mol Genet Metab. (2013) 110(1-2):42-53.