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  1. 050 医学部, 大学院医学系研究科
  2. 0501 学術論文

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
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
Clinical_Serial_MRI_Findings_Sialidosis.pdf Clinical_Serial_MRI_Findings_Sialidosis.pdf (2.0 MB)
Item type 学術雑誌論文 / Journal Article(1)
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

WEKO 6799

en Sekijima, Yoshiki

Search repository
Nakamura, Katsuya

× Nakamura, Katsuya

WEKO 6800

en Nakamura, Katsuya

Search repository
Kishida, Dai

× Kishida, Dai

WEKO 6801

en Kishida, Dai

Search repository
Narita, Aya

× Narita, Aya

WEKO 6802

en Narita, Aya

Search repository
Adachi, Kaori

× Adachi, Kaori

WEKO 6803

en Adachi, Kaori

Search repository
Ohno, Kosaku

× Ohno, Kosaku

WEKO 6804

en Ohno, Kosaku

Search repository
Nanba, Eiji

× Nanba, Eiji

WEKO 6805

en Nanba, Eiji

Search repository
Ikeda, Shu-ichi

× Ikeda, Shu-ichi

WEKO 6806

en Ikeda, Shu-ichi

Search repository
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
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
識別子タイプ PMID
関連識別子 https://pubmed.ncbi.nlm.nih.gov/23291686
関連名称 23291686
DOI
識別子タイプ DOI
関連識別子 https://doi.org/10.2169/internalmedicine.52.8901
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
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