Masami Togawa
Tottori Prefectural Central Hospital(JP)
Publications by Year
Research Areas
Epilepsy research and treatment, Pharmacological Effects and Toxicity Studies, Infectious Encephalopathies and Encephalitis, Lysosomal Storage Disorders Research, Metabolism and Genetic Disorders
Most-Cited Works
- → Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study(2016)213 cited
- → Effects of cyclodextrin in two patients with Niemann–Pick Type C disease(2012)137 cited
- → 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(2013)56 cited
- → MECP2 duplication syndrome in both genders(2012)53 cited
- → Acute encephalitis with refractory, repetitive partial seizures: Case reports of this unusual post-encephalitic epilepsy(2006)48 cited
- → Narrowing of the responsible region for severe developmental delay and autistic behaviors in WAGR syndrome down to 1.6 Mb including PAX6, WT1, and PRRG4(2013)40 cited
- → Early predictors of status epilepticus-associated mortality and morbidity in children(2014)36 cited
- → De novo ATP1A3 variants cause polymicrogyria(2021)30 cited
- → Focused metabolomics using liquid chromatography/electrospray ionization tandem mass spectrometry for analysis of urinary conjugated cholesterol metabolites from patients with Niemann–Pick disease type C and 3β-hydroxysteroid dehydrogenase deficiency(2015)23 cited
- → Basal ganglia germinoma: Diagnostic value of MR spectroscopy and 11C-methionine positron emission tomography(2008)20 cited