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Updated: Jun 21, 2025

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凝血异常和血管并发症在PGM1-CDGG中很常见

Silvia Radenkovic1, Sofie Bleukx2, Nicole Engelhardt3

  • 1Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Genetics, Section Metabolic Diagnostics, UMC Utrecht, Utrecht, NL.

Molecular genetics and metabolism
|July 5, 2024
PubMed
概括

凝血异常常见于糖突变酶-1-血糖化 (PGM1-CDG) 的先天性障碍,并且在治疗D-银糖时得到改善. 抗血素缺乏症很常见,而D-银糖在治疗这些PGM1-CDG并发症方面表现有前途.

关键词:
凝血异常 凝血异常葡萄糖化的一种先天性疾病 ().银河糖疗法是一种银河糖疗法.酸葡萄糖转化酶-1的使用.

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