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Updated: Sep 14, 2025

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遗传代谢疾病的简要历史:一个60年的个人临床回忆录

Jean-Marie Saudubray1, Manuel Schiff2,3

  • 1Paris, France.

Journal of inherited metabolic disease
|July 22, 2025
PubMed
概括

代谢的先天性错误 (IEM) 现在超过1800种,影响所有医学领域. 精准医学,结合遗传和生物化学测试,是诊断和治疗这些复杂的遗传疾病的关键.

关键词:
遗传代谢性疾病是天生的代谢性疾病.遗传代谢性疾病 遗传代谢性疾病代谢障碍 代谢障碍 代谢障碍精准医学是一门精准的医学.代谢过程中的先天性错误.

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