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Updated: Sep 12, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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建立一个关键的结果集,用于肌载体缺乏和瓜尼迪诺酸甲基转移酶缺乏

Zahra Nasseri Moghaddam1, Emily K Reinhardt2, Audrey Thurm3

  • 1Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

Orphanet journal of rare diseases
|August 8, 2025
PubMed
概括

在患者和护理人员的投入下,开发了一种针对肌酸载体 (CTD) 和瓜尼迪诺酸甲基转移酶 (GAMT) 缺陷的新核心结果集 (COS). 这种以患者为中心的方法将改善这些罕见代谢障碍的临床试验结果.

关键词:
核心成果集 (COS) 的核心成果集 (COS)肌酸载体缺乏症 肌酸载体缺乏症瓜尼迪诺酸甲基转移酶缺乏症以患者为中心的药物开发.以患者为中心的研究.罕见疾病是一种罕见的疾病.

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