Kozo Mutoh

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency

Ayako Tabata, Jian-sheng Sheng, Miharu Ushikai et al. · Journal of Human Genetics · 2008 · 128 citations

Genetic Disorder, Genetics, Pathology +9

Citrin deficiency and current treatment concepts

Takeyori Saheki, Kanako Inoue, Anmi Tushima et al. · Molecular Genetics and Metabolism · 2010 · 90 citations

Primary Immunodeficiency, Autoimmune Disease, Pharmacotherapy +3

Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy

Tomohiro Kumada, Masatoshi Ito, Tomoko Miyajima et al. · Brain and Development · 2005 · 66 citations

Neuropsychology, Psychiatry, Genetic Disorder +9

Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome

Tatsuya Fujii, Masatoshi Ito, Takehiko Okuno et al. · The Journal of Pediatrics · 1990 · 45 citations

Probable Leigh Syndrome, Mendelian Disorder, Genetic Disorder +6

ACTH therapy in infantile spasms: Relationship between dose of ACTH and initial effect or long-term prognosis

Masatoshi Ito, Takehiko Okuno, Tatsuya Fujii et al. · Pediatric Neurology · 1990 · 45 citations

Pediatrics, Infantile Spasms, Rehabilitation +2