Eiko Kaneshiro

Endoplasmic reticulum stress induces autophagy through activation of p38 MAPK in fibroblasts from Pompe disease patients carrying c.546G>T mutation.

Y. Eto, Katsuhiko Aoki, Hiroshi Kobayashi, 2011, Molecular genetics and metabolism.

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease

T. Higuchi, H. Ida, T. Ohashi, 2019, Journal of Human Genetics.

Identification of Cryptic Novel α-Galactosidase A Gene Mutations: Abnormal mRNA Splicing and Large Deletions.

Y. Eto, S. Maeda, A. Ohtake, 2016, JIMD reports.

Clinical and genetic study of Japanese patients with type 3 Gaucher disease.

Y. Eto, Takayuki Yokoi, H. Ida, 2009, Molecular genetics and metabolism.

Frequency of de novo mutations in Japanese patients with Fabry disease

Y. Eto, T. Higuchi, H. Ida, 2014, Molecular genetics and metabolism reports.

Effect of donor chimerism to reduce the level of glycosaminoglycans following bone marrow transplantation in a murine model of mucopolysaccharidosis type II

H. Nakauchi, M. Akiyama, Kentaro Yokoi, 2015, Journal of Inherited Metabolic Disease.

Prognostic factors for the late onset Pompe disease with enzyme replacement therapy: from our experience of 4 cases including an autopsy case.

Y. Eto, M. Ikegami, M. Ōsawa, 2010, Molecular genetics and metabolism.

Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry disease

T. Higuchi, H. Ida, T. Ohashi, 2019, Journal of Human Genetics.