Toshika Okumiya

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 · 102 citations

Life Sciences, Biochemistry, Molecular Biology +7

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 · 99 citations

Life Sciences, Biochemistry, Molecular Biology +10

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 · 79 citations

Life Sciences, Immunology, Pathology +11

High Incidence of Thrombosis in Fabry's Disease.

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

Medicine, Genetics, Hematology +12

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 · 75 citations

Life Sciences, Genetics, Molecular Genetics +17