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Pediatric Neurology|August 10, 2005
Thiamine-responsive congenital lactic acidosis: clinical and biochemical studiesMitsuo Toyoshima, Akira Oka, Yoshiko Egi, et al.Neuropediatrics|February 5, 2013
Association of acute cerebellar ataxia and human papilloma virus vaccination: a case reportChihiro Yonee, Mitsuo Toyoshima, Yoshihiro Maegaki, et al.Brain & Development|April 24, 2012
Quantitative computed tomography for enzyme replacement therapy in Pompe diseaseChihiro Yonee, Mitsuo Toyoshima, Sarah P Young, et al.American Journal of Medical Genetics. Part A|April 17, 2008
Live birth prevalence of Down syndrome in Tottori, Japan, 1980-1999Ariko Takeuchi, Hiroaki Ehara, Kyoichi Ohtani, et al.Journal of the Neurological Sciences|April 19, 2011
Clinical and MRI characteristics of acute encephalopathy in congenital adrenal hyperplasiaSooyoung Lee, Masafumi Sanefuji, Kenji Watanabe, et al.JIMD Reports|February 23, 2013
Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass SpectrometryToshiyuki Fukao, Shinsuke Maruyama, Toshihiro Ohura, et al.Brain & Development|September 18, 2007
Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin: a new syndrome?Yoshiaki Saito, Mitsuo Toyoshima, Akira Oka, et al.Yonago Acta Medica|April 6, 2016
Distinguishing Acute Encephalopathy with Biphasic Seizures and Late Reduced Diffusion from Prolonged Febrile Seizures by Acute Phase EEG Spectrum AnalysisMasayoshi Oguri, Yoshiaki Saito, Chisako Fukuda, et al.Brain & Development|December 4, 2014
Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological reportHesham Montassir, Yoshihiro Maegaki, Kei Murayama, et al.Neurology|March 29, 2013
ADORA2A polymorphism predisposes children to encephalopathy with febrile status epilepticusMayu Shinohara, Makiko Saitoh, Daisuke Nishizawa, et al.Pageof 3