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

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Title: Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
Authors: Watanabe S; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Lei M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Nakagawa E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan. Electronic address: nakagawa@ncnp.go.jp., Takeshita E; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Inamori KI; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Japan., Shishido F; Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Japan., Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Mitsuhashi S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan; Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Japan., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan., Kimura Y; Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Iwasaki M; Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Takahashi Y; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Mizusawa H; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan., Migita O; Department of Laboratory Medicine, St. Marianna University, School of Medicine, Japan., Ohno I; Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Japan., Inokuchi JI; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Japan; Forefront Research Center, Graduate School of Science, Osaka University, Japan.
Source: Brain & development [Brain Dev] 2023 May; Vol. 45 (5), pp. 270-277. Date of Electronic Publication: 2023 Jan 21.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 7909235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7131 (Electronic) Linking ISSN: 03877604 NLM ISO Abbreviation: Brain Dev Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants.
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  Data: <searchLink fieldCode="AU" term="%22Watanabe+S%22">Watanabe S</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Lei+M%22">Lei M</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.<br /><searchLink fieldCode="AU" term="%22Nakagawa+E%22">Nakagawa E</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan. Electronic address: nakagawa@ncnp.go.jp.<br /><searchLink fieldCode="AU" term="%22Takeshita+E%22">Takeshita E</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Inamori+KI%22">Inamori KI</searchLink>; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Japan.<br /><searchLink fieldCode="AU" term="%22Shishido+F%22">Shishido F</searchLink>; Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Japan.<br /><searchLink fieldCode="AU" term="%22Sasaki+M%22">Sasaki M</searchLink>; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Mitsuhashi+S%22">Mitsuhashi S</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan; Division of Neurology, Department of Internal Medicine, St. Marianna University School of Medicine, Japan.<br /><searchLink fieldCode="AU" term="%22Matsumoto+N%22">Matsumoto N</searchLink>; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.<br /><searchLink fieldCode="AU" term="%22Kimura+Y%22">Kimura Y</searchLink>; Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Iwasaki+M%22">Iwasaki M</searchLink>; Department of Neurosurgery, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Takahashi+Y%22">Takahashi Y</searchLink>; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Mizusawa+H%22">Mizusawa H</searchLink>; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Japan.<br /><searchLink fieldCode="AU" term="%22Migita+O%22">Migita O</searchLink>; Department of Laboratory Medicine, St. Marianna University, School of Medicine, Japan.<br /><searchLink fieldCode="AU" term="%22Ohno+I%22">Ohno I</searchLink>; Center for Medical Education, Faculty of Medicine, Tohoku Medical and Pharmaceutical University, Japan.<br /><searchLink fieldCode="AU" term="%22Inokuchi+JI%22">Inokuchi JI</searchLink>; Division of Glycopathology, Institute of Molecular Biomembrane and Glycobiology, Tohoku Medical and Pharmaceutical University, Japan; Forefront Research Center, Graduate School of Science, Osaka University, Japan.
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  Data: <searchLink fieldCode="JN" term="%227909235%22">Brain & development</searchLink> [Brain Dev] 2023 May; Vol. 45 (5), pp. 270-277. <i>Date of Electronic Publication: </i>2023 Jan 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>7909235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1872-7131 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203877604%22">03877604 </searchLink><i>NLM ISO Abbreviation: </i>Brain Dev <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.braindev.2023.01.002
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        Text: English
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              M: 05
              Text: 2023 May
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