WEKO3
-
RootNode
アイテム
Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria
https://asahikawa-med.repo.nii.ac.jp/records/2000528
https://asahikawa-med.repo.nii.ac.jp/records/2000528e0bb0146-29f6-4f72-afb4-6fc35557685f
名前 / ファイル | ライセンス | アクション |
---|---|---|
![]() |
Item type | 学術雑誌論文 / Journal Article_02(1) | |||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
公開日 | 2025-06-18 | |||||||||||||||||||
タイトル | ||||||||||||||||||||
タイトル | Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria | |||||||||||||||||||
言語 | en | |||||||||||||||||||
言語 | ||||||||||||||||||||
言語 | eng | |||||||||||||||||||
キーワード | ||||||||||||||||||||
主題Scheme | Other | |||||||||||||||||||
キーワード | Fabry disease | |||||||||||||||||||
キーワード | ||||||||||||||||||||
主題Scheme | Other | |||||||||||||||||||
キーワード | Renal pathology | |||||||||||||||||||
キーワード | ||||||||||||||||||||
主題Scheme | Other | |||||||||||||||||||
キーワード | Urinary mulberry cells | |||||||||||||||||||
資源タイプ | ||||||||||||||||||||
資源タイプ | journal article | |||||||||||||||||||
アクセス権 | ||||||||||||||||||||
アクセス権 | open access | |||||||||||||||||||
アクセス権URI | http://purl.org/coar/access_right/c_abf2 | |||||||||||||||||||
著者 |
Natsuo, Yamada
× Natsuo, Yamada
× Hirofumi, Sakuma
× Mitsuru, Yanai
× Ayana, Suzuki
× Keisuke, Maruyama
× Motoki, Matsuki
× Naoki, Nakagawa
|
|||||||||||||||||||
bibliographic_information |
en : Molecular genetics and metabolism reports. 巻 31, p. 100874, 発行日 2022-04-22 |
|||||||||||||||||||
ISSN | ||||||||||||||||||||
収録物識別子タイプ | EISSN | |||||||||||||||||||
収録物識別子 | 2214-4269 | |||||||||||||||||||
DOI | ||||||||||||||||||||
関連タイプ | isIdenticalTo | |||||||||||||||||||
識別子タイプ | DOI | |||||||||||||||||||
関連識別子 | https://doi.org/10.1016/j.ymgmr.2022.100874 | |||||||||||||||||||
リンクURL | ||||||||||||||||||||
内容記述タイプ | Other | |||||||||||||||||||
内容記述 | https://www.sciencedirect.com/science/article/pii/S2214426922000349 | |||||||||||||||||||
言語 | en | |||||||||||||||||||
item_1716186501932 | ||||||||||||||||||||
関連タイプ | isIdenticalTo | |||||||||||||||||||
識別子タイプ | PMID | |||||||||||||||||||
関連識別子 | 35782605 | |||||||||||||||||||
item_5_description_33 | ||||||||||||||||||||
内容記述タイプ | Abstract | |||||||||||||||||||
内容記述 | We describe the cases of 47- and 45-year-old sisters who were diagnosed with Fabry disease by genomic analysis. Although the only abnormal finding was the presence of mulberry cells in their urinary sediment, the renal pathological scores, which were evaluated by light and electron microscopy, were unexpectedly very high due to severe accumulation of globotriaosylceramide in the glomerular podocytes and tubular epithelial cells. Nephrologists and laboratory technicians should recognize the importance of screening for mulberry cells during urinalysis as this is a simple, inexpensive, and non-invasive method for early diagnosis, leading to early treatment of Fabry disease. | |||||||||||||||||||
言語 | en | |||||||||||||||||||
注記 | ||||||||||||||||||||
内容記述タイプ | Other | |||||||||||||||||||
注記 | ©2022. This manuscript version is made available under the CC-BY 4.0 license https://creativecommons.org/licenses/by/4.0/ |
|||||||||||||||||||
言語 | en | |||||||||||||||||||
出版タイプ | ||||||||||||||||||||
出版タイプ | VoR | |||||||||||||||||||
item_5_textarea_42 | ||||||||||||||||||||
en | ||||||||||||||||||||
© 2022 The Authors. |
Share
Cite as
Natsuo, Yamada, Hirofumi, Sakuma, Mitsuru, Yanai, Ayana, Suzuki, Keisuke, Maruyama, Motoki, Matsuki, Naoki, Nakagawa, n.d., Unexpectedly high renal pathological scores of two female siblings with Fabry disease presenting with urinary mulberry cells without microalbuminuria: 100874– p.
Loading...