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Updated: Jun 14, 2025

Identification and Characterization of Protein Glycosylation using Specific Endo- and Exoglycosidases
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评估卡诺酶1活性,用于诊断血糖化先天性疾病

Livia Interdonato1, Nastassja Himmelreich2, Sven F Garbade2

  • 1Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, 69120 Heidelberg, Germany; University of Messina, Department of Chemical, Biological, Pharmaceutical and Environmental Science, Messina, Italy.

Molecular genetics and metabolism
|September 3, 2024
PubMed
概括

葡萄糖蛋白卡诺酶1 (CN1) 活性显示出作为先天性葡萄糖化乱 (CDG) 的诊断标记物的潜力. 虽然不是一个独立的测试,但CN1活性可以补充传统方法,特别是对于异常结果的患者.

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