頁籤選單縮合
題 名 | Lesch-Nyhan Disease and Related Disorders of Purine Metabolism |
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作 者 | Nyhan, William L.; | 書刊名 | 慈濟醫學 |
卷 期 | 19:3 2007.09[民96.09] |
頁 次 | 頁105-108 |
分類號 | 417.509 |
關鍵詞 | HPRT; Hyperuricemia; Lesch-Nyhan disease; Mutation; Self-injurious behavior; |
語 文 | 英文(English) |
英文摘要 | Lesch-Nyhan disease is the most sever or complete phenotype of deficiency in hypoxanthine-guanine phosphoribosyl transferase (HPRT). Other variant enzymes are found in patients without abnormality in behavior or mental development; and there are intermediate phenotypes in which enzyme activity is intermediate. A considerable number and variety of mutations in the HPRT gene have been discovered. |
本系統中英文摘要資訊取自各篇刊載內容。