| ID | 16250 |
| Eprint ID | 16250
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| FullText URL | |
| Title Alternative | Identification of sphingoglycolipids in a patient regarded as having Fabry's disease.
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| Author |
Fujii, Junko
Kiguchi, Kenichiro
Nagata, Akihide
Hirai, Yoshikazu
Kanemasa, Yasuhiro
Kobayashi, Jun
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| Abstract | Fabry's disease is one of the inherited diseases, in which sphingoglycolipids accumulate systemically in tissue as the result of defective α-galactosyl hydrolase. In this paper, we studied a 54 year-old female who had complaints of leg pain, palpebral edema and telangiectasis and in whom foam cells in renal biopsy as well as proteinuria in urinalysis were revealed. As an increase of sphingoglycolipids was discovered in her urinary sediment by biochemical analysis, this patient was shown to be suffering from Fabry's disease.
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| Keywords | Fabry's disease
Lipidosis
Hexosyl ceramide
Hereditary disease
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| Published Date | 1983-02-28
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| Publication Title |
岡山医学会雑誌
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| Publication Title Alternative | Journal of Okayama Medical Association
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| Volume | volume95
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| Issue | issue1-2
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| Publisher | 岡山医学会
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| Publisher Alternative | Okayama Medical Association
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| Start Page | 35
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| End Page | 40
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| ISSN | 0030-1558
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| NCID | AN00032489
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| Content Type |
Journal Article
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| Official Url | https://www.jstage.jst.go.jp/article/joma1947/95/1-2/95_1-2_35/_article/-char/ja/
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| Related Url | http://www.okayama-u.ac.jp/user/oma/index.html
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| language |
Japanese
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| Copyright Holders | 岡山医学会
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| File Version | publisher
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| Refereed |
True
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| Eprints Journal Name | joma
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