Concepedia

Toshika Okumiya

TO

33

Publications

1.2K

Citations

21

H-Index

1995

Active since

Affiliations

Kumamoto University(Current)

Tokyo Metropolitan Institute of Medical Science

Kumamoto Health Science University

Kōchi University

Kochi Medical School Hospital

Toshika Okumiya is an author at Kumamoto University specializing in medicine, pathology, and glycobiology.

Top concepts

Publications per year

1995–2020

33

Publications

33

Galactose Stabilizes Various Missense Mutants of α-Galactosidase in Fabry Disease

Toshika Okumiya, Shoken Ishii, Takeshi Takenaka et al. · Biochemical and Biophysical Research Communications · 1995 · 101 citations

, , +6

Chemical chaperones improve transport and enhance stability of mutant α-glucosidases in glycogen storage disease type II

Toshika Okumiya, Marian A. Kroos, Laura Van de Vliet et al. · Molecular Genetics and Metabolism · 2006 · 98 citations

, , +14

High Incidence of Thrombosis in Fabry's Disease.

Kouichi Utsumi, Naomasa Yamamoto, Ryoichi Kase et al. · Internal Medicine · 1997 · 78 citations · Full text

, , +19

A new diagnostic assay for glycogen storage disease type II in mixed leukocytes

Toshika Okumiya, J. L. M. Keulemans, Marian A. Kroos et al. · Molecular Genetics and Metabolism · 2005 · 78 citations

, , +11

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos, Marianne Hoogeveen‐Westerveld, Helen Michelakakis et al. · Human Mutation · 2012 · 71 citations

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