頁籤選單縮合
題名 | Fabry Disease=法布瑞氏症 |
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作者 | 連偉成; 郭熙文; Lian, Wei-cheng; Kuo, Shi-wen; |
期刊 | Journal of Medical Sciences |
出版日期 | 20030800 |
卷期 | 23:4 2003.08[民92.08] |
頁次 | 頁239-242 |
分類號 | 415.928 |
語文 | eng |
關鍵詞 | 法布瑞氏症; α-glactosidase A; Fabry disease; |
英文摘要 | Fabry disease is a rare X-linked hereditary disorder of the glycosphingolipid metabolism with a deficiency of lysosomal enzyme α-galactosidase A. We report a 20-year-old man who had painful acroparesthesia, disseminated skin angiokeratomas, and whorled corneal opacity. Skin biopsy showed angiokeratoma. Reduced serum activity ofα-galactosidase A confirmed the diagnosis of Fabry disease. Reduced serum activity ofα-galactosidase A also presented in the patient's mother and older brother. After a detailed search for this disease in the English- and Chinese-language literature, this is the 4th reported case of Fabry disease in Taiwan. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。