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Means and methods for diagnosing and treating CDG caused by a deficiency of PGM1
Means and methods for diagnosing and treating CDG caused by a deficiency of PGM1
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机译:诊断和治疗由PGM1缺乏引起的CDG的方法和方法
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摘要
The present invention relates to means and methods for diagnosing a mixed congenital disorder of glycosylation (CDG) caused by a deficiency of phosphoglucomutase-1 (PGM1). Furthermore, the present invention provides means and methods for treating such a disorder.
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