Search Results - "Mutoh, Kozo"

Identification of 13 novel mutations including a retrotransposal insertion in SLC25A13 gene and frequency of 30 mutations found in patients with citrin deficiency by Tabata, Ayako, Sheng, Jian-Sheng, Ushikai, Miharu, Song, Yuan-Zong, Gao, Hong-Zhi, Lu, Yao-Bang, Okumura, Fumihiko, Iijima, Mikio, Mutoh, Kozo, Kishida, Shosei, Saheki, Takeyori, Kobayashi, Keiko

“…Deficiency of citrin, liver-type mitochondrial aspartate-glutamate carrier, is an autosomal recessive disorder caused by mutations of the SLC25A13 gene on…”
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Evaluation of new commercial immunochromatography kit for norovirus in feces by Mutoh, Kozo, Hakamata, Akihiro, Yagi, Hideya, Kurokawa, Keiji, Miki, Naoki, Kurita, Izumi

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Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy by Kumada, Tomohiro, Ito, Masatoshi, Miyajima, Tomoko, Fujii, Tatsuya, Okuno, Takehiko, Go, Toshin, Hattori, Haruo, Yoshioka, Mieko, Kobayashi, Kenichiro, Kanazawa, Osamu, Tohyama, Jun, Akasaka, Noriyuki, Kamimura, Takanori, Sasagawa, Mutsuo, Amagane, Hideki, Mutoh, Kozo, Yamori, Yuriko, Kanda, Toyoko, Yoshida, Naoko, Hirota, Haruyo, Tanaka, Rieko, Hamada, Yasushi

“…While there is an abundance of literature describing the association of chromosome aberrations with epilepsy, only a few refer to the detailed features of…”
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Citrin deficiency and current treatment concepts by Saheki, Takeyori, Inoue, Kanako, Tushima, Anmi, Mutoh, Kozo, Kobayashi, Keiko

“…In this paper, we describe the historical aspects of citrin and citrin deficiency, characteristic food preference and food aversion of citrin-deficient…”
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A spontaneous bilateral subdural effusion in an 11-year-old boy with middle cranial fossa arachnoid cyst by Kumada, Tomohiro, Mutoh, Kozo, Sakaguchi, Masakazu, Murata, Keiji

“…An 11-year-old boy gradually developed headache, vomiting and diplopia over a period of 1 month. Repeated examinations of head CT scan revealed an arachnoid…”
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ACTH therapy in infantile spasms: relationship between dose of ACTH and initial effect or long-term prognosis by Ito, M, Okuno, T, Fujii, T, Mutoh, K, Oguro, K, Shiraishi, H, Shirasaka, Y, Mikawa, H

“…The relationship between the dose of ACTH and the initial effect was investigated in 41 children with infantile spasms. More than 0.015 mg (0.6 IU)/kg/day of…”
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Maturational study of short-latency somatosensory evoked potentials after posterior tibial nerve stimulation in infants and children by Mutoh, K, Hojo, H, Mikawa, H

“…SSEPs produced in response to PTN stimulation were studied in 41 normal infants and children from 4 months to 16 years in age. SSEPs were recorded on the scalp…”
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Somatosensory evoked potentials in Hallervorden-Spatz-neuroaxonal-dystrophy complex with dorsal column involvement by Mutoh, K, Okuno, T, Ito, M, Mikawa, H

“…Two patients with a marked hypointensity of the globus pallidus on magnetic resonance imaging (MRI), which is known to be diagnostic for Hallervorden-Spatz…”
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Pathophysiology of infantile hydrocephalus: studies with multivariate analysis by Mutoh, K, Mikawa, H, Okuno, T

“…We investigated factors relating to intellectual outcome in 21 patients with infantile hydrocephalus. Every patient had received V-P shunt operation before,…”
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Juvenile Gaucher disease: an observation of myoclonus in a five-year-old girl by Mutoh, K, Nakagawa, Y, Hojo, H

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Possible induction of systemic lupus erythematosus by zonisamide by Mutoh, Kozo, Hidaka, Yoshihiko, Hirose, Yasuyuki, Kimura, Mitsuaki

“…An epileptic male to whom zonisamide and ethosuximide had been administered exhibited fever, pericarditis, pleuritis, arthralgia, and elevated titers of…”
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Complex I (reduced nicotinamide-adenine dinucleotide-coenzyme Q reductase) deficiency in two patients with probable Leigh syndrome by Fujii, T, Ito, M, Okuno, T, Mutoh, K, Nishikomori, R, Mikawa, H

“…Two infants who had clinical and radiographic findings consistent with Leigh syndrome were found to have deficiency of complex I (reduced nicotinamide-adenine…”
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Age- and seizure-related changes in noradrenaline and dopamine in several brain regions of epileptic El mice by TSUDA, H, ITO, M, OGURO, K, MUTOH, K, SHIRAISHI, H, SHIRASAKA, Y, MIKAWA, H

“…Noradrenaline (NA) and dopamine (DA) levels in six brain regions of stimulated and nonstimulated El (El[s] and El[ns]) mice and their maternal ddY mice were…”
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MELAS of infantile onset: mitochondrial angiopathy or cytopathy? by Fujii, T, Okuno, T, Ito, M, Mutoh, K, Horiguchi, Y, Tashiro, H, Mikawa, H

“…An 83-day-old male infant had convulsions, hypertrophic cardiomyopathy, and lactic acidosis. Cranial computed tomography revealed low-density areas in both…”
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Involvement of the noradrenergic system in the seizures of epileptic El mice by Tsuda, H, Ito, M, Oguro, K, Mutoh, K, Shiraishi, H, Shirasaka, Y, Mikawa, H

“…We studied the role of the noradrenergic system in the seizures of epileptic El mice. To this end, the anticonvulsant activity of adrenergic drugs was tested…”
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Association of NMDA receptor sites and seizures of El mice by Oguro, K, Ito, M, Tsuda, H, Mutoh, K, Shiraishi, H, Shirasaka, Y, Mikawa, H

“…To investigate the possible role of N-methyl-D-aspartate (NMDA) receptors in the seizures of El mice, a genetic animal model of epilepsy, we measured…”
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Continuous, generalized, high-voltage fast activity and FIRDA in two children by Mutoh, K, Okuno, T, Ito, M, Fujii, T, Mikawa, H

“…The EEG pattern of continuous, generalized, high-voltage fast rhythms without any reaction to eye-opening/closure, photic stimulation, or the sleep-awaking…”
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GABA-gated chloride ion influx in brains of epileptic El mice by ITO, M, TSUDA, H, OGURO, K, MUTOH, K, SHIRAISHI, H, SHIRASAKA, Y, MIKAWA, H

“…GABA-gated chloride ion influx was measured in brain "microsac" preparations of epileptic El mice. There was significantly greater sensitivity to GABA in…”
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NMDA-sensitive L-[3H]glutamate binding in cerebral cortex of El mice by Oguro, K, Ito, M, Tsuda, H, Mutoh, K, Shiraishi, H, Shirasaka, Y, Mikawa, H

“…NMDA-sensitive L-[3H]glutamate binding was examined in the brains of El mice, a genetic animal model of epilepsy, and in ddY mice. In whole brain, Scatchard…”
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Maturation of somatosensory evoked potentials upon posterior tibial nerve stimulation by Mutoh, K, Okuno, T, Mikawa, H, Hojo, H

“…Somatosensory evoked potentials produced in response to posterior tibial nerve stimulation were studied in 42 normal infants and children, ages 4 months to 16…”
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