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3-methylglutaconic aciduria in a Chinese patient with glycogen storage disease Ib (2003)_香港中文大学化學病理學

香港中文大学 辅仁网/2017-06-20

3-methylglutaconic aciduria in a Chinese patient with glycogen storage disease Ib
Publication in refereed journal


香港中文大学研究人员 ( 现职)
霍泰辉教授 (儿科学系)
林伟基教授 (化学病理学系)
邓亮生教授 (化学病理学系)


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引用次数
Web of Sciencehttp://aims.cuhk.edu.hk/converis/portal/Publication/7WOS source URL

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摘要We report elevated urinary excretion of 3-methylglutaconic (3MGC) and 3-methylglutaric acids (3MGR) in a patient with glycogen storage disease Ib. Combined excretion was 10-fold elevated in comparison to control during inadequate glucose maintenance, and still elevated following dietary improvement. 3MGC excretion correlated with plasma lactate and glucose. We speculate that imbalanced gluconeogenesis and de novo cholesterol synthesis result in secondarily increased 3MGC/3MGR production.

着者Law LK, Tang NLS, Hui J, Lam CWK, Fok TF
期刊名称Journal of Inherited Metabolic Disease
出版年份2003
月份1
日期1
卷号26
期次http://aims.cuhk.edu.hk/converis/portal/Publication/7
出版社KLUWER ACADEMIC PUBL
页次http://aims.cuhk.edu.hk/converis/portal/Publication/705 - http://aims.cuhk.edu.hk/converis/portal/Publication/709
国际标準期刊号0141-8955
语言英式英语

Web of Science 学科类别Endocrinology & Metabolism; ENDOCRINOLOGY & METABOLISM; Genetics & Heredity; GENETICS & HEREDITY

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