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Updated: Feb 4, 2026

Curation of Computational Chemical Libraries Demonstrated with Alpha-Amino Acids
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Curation of Computational Chemical Libraries Demonstrated with Alpha-Amino Acids

Published on: April 13, 2022

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分支链氨基酸转移酶2 (BCAT2) 缺乏:一系列病例和系统审查

Maja Filipic1, Ziga Iztok Remec2, Ana Drole Torkar1,3

  • 1Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.

Molecular genetics and metabolism reports
|February 2, 2026
PubMed
概括

分支链氨基酸转氨酶2 (BCAT2) 缺乏症呈现出广泛的症状,从无症状到严重的神经问题. 素补充剂可以降低BCAA水平,但临床改善有所不同,突出了诊断方面的挑战.

关键词:
这是BCAT2BCAT2分支链氨基酸转氨酶2的作用.分支链氨基酸分支链氨基酸.超氨酸 - 隔离氨酸血症超高性血症 (Hypervalinemia) 是一种高性血症.胰岛素耐药性 胰岛素耐药性是一种白质异常 白质异常

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