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Acute Intermittent Porphyria: A Diagnostic Challenge for Endocrinologist 被引量:7
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作者 Tao Yuan Yu-Hui Li Xi Wang Feng-Ying Gong Xue-Yan Wu Yong Fu Wei-Gang Zhao 《Chinese Medical Journal》 SCIE CAS CSCD 2015年第14期1980-1981,共2页
INTRODUCTION Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase (HMBS), the... INTRODUCTION Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of metabolism caused by deficiency of porphobilinogen (PBG) deaminase, also known as hydroxymethylbilane synthase (HMBS), the third enzyme in the heine biosynthetic pathway. 展开更多
关键词 Acute Intermittent Porphyria hydroxymethylbilane synthase gene Hyponatremia: Syndrome of Inappropriate Antidiuretic Hormone Secretion
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