Toshika Okumiya

Summary

Affiliation: Kumamoto University
Country: Japan

Publications

  1. ncbi A new diagnostic assay for glycogen storage disease type II in mixed leukocytes
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000DR Rotterdam, The Netherlands
    Mol Genet Metab 88:22-8. 2006
  2. ncbi Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Genet Metab 90:49-57. 2007
  3. ncbi Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    Fumiko Matsuzawa
    Celestar Lexico Sciences Inc, MTG 17, 1 3 Nakase, Chiba 261 8501, Japan
    Hum Genet 117:317-28. 2005
  4. ncbi Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"
    Youichi Tajima
    Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
    J Hum Genet 52:898-906. 2007

Collaborators

Detail Information

Publications4

  1. ncbi A new diagnostic assay for glycogen storage disease type II in mixed leukocytes
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, P O Box 1738, 3000DR Rotterdam, The Netherlands
    Mol Genet Metab 88:22-8. 2006
    ..0 allows for the specific measurement of lysosomal acid alphaGlu activity in mixed leukocytes, thus enabling a reliable diagnosis of glycogen storage disease type II in this specimen...
  2. ncbi Chemical chaperones improve transport and enhance stability of mutant alpha-glucosidases in glycogen storage disease type II
    Toshika Okumiya
    Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands
    Mol Genet Metab 90:49-57. 2007
    ..Chemical chaperone therapy could create new perspectives for therapeutic intervention in GSDII...
  3. ncbi Fabry disease: correlation between structural changes in alpha-galactosidase, and clinical and biochemical phenotypes
    Fumiko Matsuzawa
    Celestar Lexico Sciences Inc, MTG 17, 1 3 Nakase, Chiba 261 8501, Japan
    Hum Genet 117:317-28. 2005
    ..This study demonstrated the correlation of structural changes, and clinical and biochemical phenotypes. Structural investigation is useful for elucidating the bases of Fabry disease and clinical treatment...
  4. ncbi Structural and biochemical studies on Pompe disease and a "pseudodeficiency of acid alpha-glucosidase"
    Youichi Tajima
    Department of Clinical Genetics, The Tokyo Metropolitan Institute of Medical Science, Tokyo Metropolitan Organization for Medical Research, Tokyo, Japan
    J Hum Genet 52:898-906. 2007
    ..Structural study on a mutant acid alpha-glucosidase in silico combined with biochemical investigation is useful for understanding the molecular pathology of Pompe disease...