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Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene
http://hdl.handle.net/10091/17573
2523709e-751f-4efa-8195-5a67fe57ba08
名前 / ファイル | ライセンス | アクション | |
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Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2014-06-09 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Clinical and Serial MRI Findings of a Sialidosis Type I Patient with a Novel Missense Mutation in the NEU1 Gene | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | sialidosis | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | neuraminidase | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | ataxia | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | cherry-red spot | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | myoclonus | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | magnetic resonance imaging | |||||
資源タイプ | ||||||
資源 | http://purl.org/coar/resource_type/c_6501 | |||||
タイプ | journal article | |||||
著者 |
Sekijima, Yoshiki
× Sekijima, Yoshiki× Nakamura, Katsuya× Kishida, Dai× Narita, Aya× Adachi, Kaori× Ohno, Kosaku× Nanba, Eiji× Ikeda, Shu-ichi |
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信州大学研究者総覧へのリンク | ||||||
氏名 | Sekijima, Yoshiki | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.WhLNuakh.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Nakamura, Katsuya | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.jFSVbVym.html | |||||
信州大学研究者総覧へのリンク | ||||||
氏名 | Kishida, Dai | |||||
URL | http://soar-rd.shinshu-u.ac.jp/profile/ja.uUSVPpym.html | |||||
出版者 | ||||||
言語 | en | |||||
出版者 | JAPAN SOC INTERNAL MEDICINE | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | INTERNAL MEDICINE. 52(1):119-124(2013) | |||||
書誌情報 |
INTERNAL MEDICINE 巻 52, 号 1, p. 119-124, 発行日 2013 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The case of a Japanese sialidosis type I patient with a novel NEU1 gene mutation is described. The patient developed an unsteady gait at age 14 and was referred to our hospital at age 16. On admission, subnormal intelligence, dysarthria, myoclonus, intentional tremors, limb and gait ataxia, hyperreflexia and macular cherry-red spots were observed. An enzymological analysis revealed a primary deficiency of neuraminidase. An NEU1 gene analysis identified two heterozygous missense mutations: p.P80L and p.D135N. The p.D135N mutation is a novel mutation that is considered to be associated with the mild clinical phenotype of sialidosis. Serial brain MRI showed diffuse brain atrophy progressing rapidly over the 41-month observation period. | |||||
資源タイプ(コンテンツの種類) | ||||||
内容記述タイプ | Other | |||||
内容記述 | Article | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA10827774 | |||||
PubMed | ||||||
関連識別子 | ||||||
識別子タイプ | PMID | |||||
関連識別子 | https://pubmed.ncbi.nlm.nih.gov/23291686 | |||||
関連名称 | ||||||
関連名称 | 23291686 | |||||
DOI | ||||||
関連識別子 | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.2169/internalmedicine.52.8901 | |||||
関連名称 | ||||||
関連名称 | 10.2169/internalmedicine.52.8901 | |||||
権利 | ||||||
権利情報 | Copyright© 2013 The Japanese Society of Internal Medicine | |||||
出版タイプ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
WoS | ||||||
表示名 | Web of Science | |||||
URL | http://gateway.isiknowledge.com/gateway/Gateway.cgi?&GWVersion=2&SrcAuth=ShinshuUniv&SrcApp=ShinshuUniv&DestLinkType=FullRecord&DestApp=WOS&KeyUT=000315954500021 |