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Updated: May 12, 2026

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血代谢物,脂质物和甲酸与视力和基因型有关,但与长链3 - 酸-CoA脱酶缺乏症 (LCHADD) 的饮食摄入量无关

Hak Chung1, Dongseok Choi2,3, Ashley Gregor1

  • 1Department of Molecular and Medical Genetics, Oregon Health & Science University, Portland, Oregon, USA.

Journal of inherited metabolic disease
|July 10, 2025
PubMed
概括

3-基乙卡尼丁 (3-OH-ACs) 是可靠的生物标志物,用于选长链3-基亚-CoA脱酶和三功能蛋白缺陷 (LCHADD/TFPD). 这些生物标志物与患者的基因型和视觉结果相关,独立于饮食脂肪摄入量.

关键词:
3 - - 基乙卡尼提因3 - - 基脂肪酸的脂肪酸.脂肪酸氧化过程中的脂肪酸氧化.脂肪酸氧化障碍 脂肪酸氧化障碍脂质组的类型长链3-基亚-CoA脱酶缺乏症代谢生物组的代谢生物组

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