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GM1-GangliosidosisのHeterogeneityに関する研究
https://doi.org/10.15114/smj.49.462
https://doi.org/10.15114/smj.49.4625d8cdc6a-2ba4-4e64-bbef-e8e7e185df2d
名前 / ファイル | ライセンス | アクション |
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n0036472X495462.pdf (4.6 MB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2019-08-23 | |||||
タイトル | ||||||
言語 | ja | |||||
タイトル | GM1-GangliosidosisのHeterogeneityに関する研究 | |||||
タイトル | ||||||
言語 | en | |||||
タイトル | Studies on Heterogeneity in GM1-Gangliosidosis | |||||
言語 | ||||||
言語 | jpn | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | departmental bulletin paper | |||||
ID登録 | ||||||
ID登録 | 10.15114/smj.49.462 | |||||
ID登録タイプ | JaLC | |||||
著者 |
菊地, 浩一
× 菊地, 浩一 |
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著者別名 | ||||||
姓名 | Koichi, Kikuchi | |||||
抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | The activity of GM1-β-galactosidase in leukocytes and in lymphoblastoid cell lines transformed by Epstein-Barr virus, from five patients with reduced β-galactosidase activity and their parents, was assayed with GM1-ganglioside tritiated in the terminal galactose. Moreover, an analysis of brain ganglioside was performed in two autopsy cases and an affected fetus. The activity of GM1-β-galactosidase in leukocytes and lymphoblastoid cells from four cases was profoundly deficient, and their parents were found to be carriers of obligate heterozygotes. Accordingly, these patients were diagnosed as GM1-gangliosidosis. The activity in leukocytes from a case showed about 6% of the control level and the activity in lymphoblastoid cells was enhanced to a level of about 70% of the control. Although his mother showed the levels of carriers in both samples, the levels of his father were normal. This patient was similar to sialidosis type II with a secondary β-galactosidase defect on the clinical and biochemical findings. However, there are several questionable points at present with regard to the procedures of sialidase assay and further studies into these problems are necessary. On the analys is of the two cases of gangliosides in the brain affected by GM1-gangliosidosis and the brain of the affected fetus, it was suggested that the degree of GM1-ganglioside accumulated was not proportionally related to the level of GM1-galactosidase activity and the content of GM1-ganglioside in the affected fetal brain was similar to the control level. | |||||
書誌情報 |
札幌医学雑誌 = The Sapporo medical journal en : The Sapporo medical journal 巻 49, 号 5, p. 462-473, 発行日 1980-10-01 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0036-472X | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
出版者 | ||||||
出版者 | 札幌医科大学医学部 |