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A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination
https://repository.lib.tottori-u.ac.jp/records/5072
https://repository.lib.tottori-u.ac.jp/records/5072c97ab51e-bb37-4cbb-b4e7-71dac3972c8a
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
49_077-082.pdf (106.7 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2018-06-22 | |||||
| タイトル | ||||||
| タイトル | A New X-Linked Mental Retardation Syndrome with Diplegia and Delayed Myelination | |||||
| 言語 | en | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | L1 cell adhesion molecule | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | myelination delay | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | proteolipid protein | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | spastic diplegia | |||||
| キーワード | ||||||
| 主題Scheme | Other | |||||
| 主題 | X-linked mental retardation syndrome | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | L1 cell adhesion molecule | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | myelination delay | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | proteolipid protein | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | spastic diplegia | |||||
| キーワード | ||||||
| 言語 | en | |||||
| 主題Scheme | Other | |||||
| 主題 | X-linked mental retardation syndrome | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Ehara, Hiroaki
× Ehara, Hiroaki× Ohtani, Kyoichi× Yamamoto, Toshiyuki× Ohno, Kousaku× Takeshita, Kenzo× Kanemura, Yonehiro× Yamasaki, Mami× Ehara, Hiroaki× Ohtani, Kyoichi× Yamamoto, Toshiyuki× Takeshita, Kenzo× Kanemura, Yonehiro× Yamasaki, Mami |
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| 著者所属 | ||||||
| 値 | Department of Early Childhood Education and Care, Kurashiki City College | |||||
| 著者所属 | ||||||
| 値 | Department of Pediatrics, Chizu Municipal Hospital | |||||
| 著者所属 | ||||||
| 値 | Kanagawa Children's Medical Center | |||||
| 著者所属 | ||||||
| 値 | Department of Child Neurology, Institute of Neurological Sciences, Tottori University Faculty of Medicine | |||||
| 著者所属 | ||||||
| 値 | Daiichi Welfare University | |||||
| 著者所属 | ||||||
| 値 | Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, National Hospital Organization | |||||
| 著者所属 | ||||||
| 値 | Institute for Clinical Research and Department of Neurosurgery, Osaka National Hospital, National Hospital Organization | |||||
| 抄録 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | We report three boys (4, 6 and 8 years old) in a Japanese family with X-linked (XL) recessive severe mental retardation (MR), rigidospastic diplegia, mild athetotic movement of the upper limbs, delayed myelination and poor weight gain. Neurological manifestations were non-progressive. No deterioration of development, convulsion, cerebellar signs, dysarthria, pseudobulbar signs, or minor anomalies including facial dysmorphism or macro-orchidism were found. Ocular fundus was normal. The patients' mothers and one grandmother were clinically normal. Blood chemistry was within normal limits. Serum anti-human T-cell leukemia virus-I antibody titer was negative. Levels of plasma amino acids and serum very long chain fatty acids, and lysozomal enzyme activities from leukocytes were normal. Brain magnetic resonance imaging scans showed delayed myelination. Fragile X (FRAXA), fragile XE (FRAXE), proteolipid protein and L1 cell adhesion molecule (L1CAM) genes were normal. These findings were not consistent with previously reported 13 XLMR syndromes with paralysis. We conclude that this condition is a distinct and previously undescribed XLMR syndrome. | |||||
| 書誌情報 |
Yonago Acta medica en : Yonago Acta medica 巻 49, 号 3, p. 77-82, 発行日 2006-09 |
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| 出版者 | ||||||
| 出版者 | Tottori University Faculty of Medicine | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 13468049 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00892882 | |||||
| 権利 | ||||||
| 権利情報 | Yonago Acta medica 編集委員会 | |||||
| 情報源 | ||||||
| 関連名称 | Yonago Acta medica. 2006, 49(3), 77-82 | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
