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. |
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| 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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