A Case of Cerebrotendinous Xanthomatosis with Multiple Large Soft Tissue Tumors
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- Umemoto Yuki
- Department of Neurology, Hiroshima University Hospital
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- Ueno Hiroki
- Department of Neurology, Hiroshima University Hospital
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- Hara Naoyuki
- Department of Neurology, Hiroshima University Hospital
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- Nakamura Takeshi
- Department of Neurology, Hiroshima University Hospital
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- Ohtsuki Toshiho
- Department of Neurology, Hiroshima University Hospital
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- Yanase Tetsuji
- Department of Dermatology, Hiroshima University Hospital
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- Yamawaki Takemori
- Department of Neurology, Hiroshima University Hospital
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- Matsumoto Masayasu
- Department of Neurology, Hiroshima University Hospital
Bibliographic Information
- Other Title
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- 多発性巨大軟部腫瘤を認めた脳腱黄色腫症の1例
- 今月の症例 多発性巨大軟部腫瘤を認めた脳腱黄色腫症の1例
- コンゲツ ノ ショウレイ タハツセイ キョダイナンブ シュリュウ オ ミトメタ ノウケンキイロ シュショウ ノ 1レイ
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Abstract
脳腱黄色腫症(cerebrotendinous xanthomatosis:CTX)は知能低下,小脳失調,白内障,腱黄色腫を呈する遺伝性代謝疾患である.本例は53歳,女性.四肢に巨大な軟部腫瘤を認め生検により黄色腫と判明.小脳歯状核病変や血清コレスタノール高値からCTXと診断しケノデオキシコール酸(chenodeoxycholic acid:CDCA)とスタチンの投与を開始した.下腿の巨大黄色腫はMRIでT2WI高信号域を認め出血や粘液変性の存在が示唆された.<br>
Journal
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- Nihon Naika Gakkai Zasshi
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Nihon Naika Gakkai Zasshi 101 (5), 1397-1400, 2012
The Japanese Society of Internal Medicine
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Details 詳細情報について
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- CRID
- 1390001206447030016
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- NII Article ID
- 10031130551
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- NII Book ID
- AN00195836
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- COI
- 1:STN:280:DC%2BC38jhtlygtg%3D%3D
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- ISSN
- 18832083
- 00215384
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- NDL BIB ID
- 023809730
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- PubMed
- 22693862
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- Text Lang
- ja
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- Data Source
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- JaLC
- NDL
- Crossref
- PubMed
- CiNii Articles
- KAKEN
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- Abstract License Flag
- Disallowed