Search Results - "Watanabe, Shiena"

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  1. 1
    Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants

    Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants by Watanabe, Shiena, Lei, Ming, Nakagawa, Eiji, Takeshita, Eri, Inamori, Kei-Ichiro, Shishido, Fumi, Sasaki, Masayuki, Mitsuhashi, Satomi, Matsumoto, Naomichi, Kimura, Yuiko, Iwasaki, Masaki, Takahashi, Yuji, Mizusawa, Hidehiro, Migita, Ohsuke, Ohno, Isao, Inokuchi, Jin-ichi

    Published in Brain & development (Tokyo. 1979) (01-05-2023)
    “…ST3GAL5 encodes GM3 synthase (ST3 beta-galactoside alpha-2,3-sialyltransferase 5; ST3GAL5), which synthesizes GM3 by transferring sialic acid to…”
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  2. 2
    Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

    Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency by Morita, Atsushi, Enokizono, Takashi, Ohto, Tatsuyuki, Tanaka, Mai, Watanabe, Shiena, Takada, Yui, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Morita, Masashi, Takashima, Shigeo, Shimozawa, Nobuyuki, Takada, Hidetoshi

    Published in Brain & development (Tokyo. 1979) (01-03-2021)
    “…Peroxisomal acyl-CoA oxidase (ACOX1) deficiency is a rare autosomal recessive single enzyme deficiency characterized by hypotonia, seizures, failure to thrive,…”
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  3. 3
    Corpus callosotomy in pediatric patients with non-lesional epileptic encephalopathy with electrical status epilepticus during sleep

    Corpus callosotomy in pediatric patients with non-lesional epileptic encephalopathy with electrical status epilepticus during sleep by Yokosako, Suguru, Muraoka, Norihiro, Watanabe, Shiena, Kosugi, Kenzo, Takayama, Yutaro, Iijima, Keiya, Kimura, Yuiko, Kaneko, Yu, Sumitomo, Noriko, Saito, Takashi, Nakagawa, Eiji, Iwasaki, Masaki

    Published in Epilepsy & behavior reports (01-01-2021)
    “…•Corpus callosotomy (CC) was performed in 3 pediatric patients with refractory epileptic encephalopathy with ESES.•IQ was improved after CC with complete…”
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  4. 4
    Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency

    Novel ACOX1 mutations in two siblings with peroxisomal acyl-CoA oxidase deficiency by Morita, Atsushi, Enokizono, Takashi, Ohto, Tatsuyuki, Tanaka, Mai, Watanabe, Shiena, Takada, Yui, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi, Morita, Masashi, Takashima, Shigeo, Shimozawa, Nobuyuki, Takada, Hidetoshi

    Published in Brain & development (01-03-2021)
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  5. 5
    Corpus callosotomy in pediatric patients with non-lesional epileptic encephalopathy with electrical status epilepticus during sleep

    Corpus callosotomy in pediatric patients with non-lesional epileptic encephalopathy with electrical status epilepticus during sleep by Yokosako, Suguru, Muraoka, Norihiro, Watanabe, Shiena, Kosugi, Kenzo, Takayama, Yutaro, Iijima, Keiya, Kimura, Yuiko, Kaneko, Yu, Sumitomo, Noriko, Saito, Takashi, Nakagawa, Eiji, Iwasaki, Masaki

    Published in Epilepsy & behavior reports (01-01-2021)
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