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頁籤選單縮合
題 名 | Inherited Metabolic Diseases of the Liver=肝臟遺傳代謝性疾病 |
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作 者 | Balistreri,William F.; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 38:6 民86.11-12 |
頁 次 | 頁411-417 |
專 輯 | 營養與肝疾病 |
分類號 | 415.53 |
關鍵詞 | 肝臟; 遺傳代謝性疾病; Metabolic liver disease; Tyrosinemia; Bile acid biosynthesis; Reye's syndrome; Neonatal iron storage disease; |
語 文 | 英文(English) |
英文摘要 | Since the time of Garrod, many of the intermediate steps of metabolism have been precisely characterized, defects pinpointed and genes identified. Certain liver diseases can be clearly attributed to mutations of genetic material resulting in alterations of metabolism or transport. Various types of metabolic disorders, each of which causes serious liver disease by quite different pathophysiologic mechanisms, are described in this paper. Metabolic disease can mimic any form of acute or chronic liver disease. Prompt recognition is crucial since some of these disorders are treatable, often dramatically so. Precise diagnosis is also imperative in order to inform the patient and their family of the genetic nature of the illness and the risk for recurrence. |
本系統中英文摘要資訊取自各篇刊載內容。