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Pediatric Neurology|December 4, 2003
New GAA mutations in Japanese patients with GSDII (Pompe disease)Judy R Pipo, Jian-Hua Feng, Toshiyuki Yamamoto, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Clinical and laboratory outcomes after umbilical cord blood transplantation in a patient with mucolipidosis II alpha/betaTakumi Shibazaki, Koichi Hirabayashi, Shoji Saito, et al.
Internal Medicine (Tokyo, Japan)|November 6, 2013
A novel mutation of the GAA gene in a patient with adult-onset Pompe disease lacking a disease-specific pathologyShohei Fujimoto, Yasuhiro Manabe, Daiki Fujii, et al.
Human Molecular Genetics|October 2, 2004
Allelic expression imbalance of the human CYP3A4 gene and individual phenotypic statusTakeshi Hirota, Ichiro Ieiri, Hiroshi Takane, et al.
Molecular Genetics and Metabolism|March 23, 2012
Therapeutic chaperone effect of N-octyl 4-epi-β-valienamine on murine G(M1)-gangliosidosisYoshiyuki Suzuki, Satoshi Ichinomiya, Mieko Kurosawa, et al.
Angewandte Chemie (International Ed. in English)|September 20, 2015
pH-Responsive Pharmacological Chaperones for Rescuing Mutant GlycosidasesTeresa Mena-Barragán, Aya Narita, Dino Matias, et al.
Journal of Medicinal Chemistry|July 6, 2012
Conformationally-locked N-glycosides with selective β-glucosidase inhibitory activity: identification of a new non-iminosugar-type pharmacological chaperone for Gaucher diseaseJavier Castilla, Rocío Rísquez, Deysi Cruz, et al.
The Journal of Biological Chemistry|April 17, 2014
Structural basis of pharmacological chaperoning for human β-galactosidaseHironori Suzuki, Umeharu Ohto, Katsumi Higaki, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|May 29, 2013
Niemann-Pick disease type C1 predominantly involving the frontotemporal region, with cortical and brainstem Lewy bodies: an autopsy caseYoichi Chiba, Hiraku Komori, Shiro Takei, et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology|March 29, 2020
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory supportAkiko Uchino, Makiko Nagai, Naomi Kanazawa, et al.
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