Masami Togawa

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

Aya Narita, Kentarou Shirai, Shinji Itamura et al. · Annals of Clinical and Translational Neurology · 2016 · 212 citations · Full text

Effects of cyclodextrin in two patients with Niemann–Pick Type C disease

Muneaki Matsuo, Masami Togawa, Keiko Hirabaru et al. · Molecular Genetics and Metabolism · 2012 · 137 citations

Medicine, Translational Medicine, Pharmacology +1

LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: New biomarkers for the detection of Niemann–Pick type C disease

Masamitsu Maekawa, Yasushi Misawa, Ayako Sotoura et al. · Steroids · 2013 · 56 citations

Biomarker (Medicine), Urology, Molecular Diagnostic Techniques +11

MECP2 duplication syndrome in both genders

Shino Shimada, Nobuhiko Okamoto, Masahiro Ito et al. · Brain and Development · 2012 · 53 citations

Infertility, Mendelian Disorder, Genetic Disorder +4

Acute encephalitis with refractory, repetitive partial seizures: Case reports of this unusual post-encephalitic epilepsy

Yoshiaki Saito, Yoshihiro Maegaki, Riina Okamoto et al. · Brain and Development · 2006 · 48 citations

Repetitive Partial Seizures, Neurology, Encephalitis +3