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Updated: Feb 11, 2026

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灰色区域项目:基于X链接上腺核缩症ABCD1变异的基于风险的分类

Troy C Lund1, Kelly Miettunen2, Yorrick R J Jaspers3

  • 1Department of Pediatrics, Pediatric Blood and Marrow Transplantation and Cellular Therapy, University of Minnesota Medical School, Minneapolis, Minnesota, USA.

Journal of inherited metabolic disease
|February 9, 2026
PubMed
概括

新生儿查X链 adrenoleukodystrophy (ALD) 现在可以更好地分类不确定的意义的ABCD1变体. 一个新的风险分层框架减少了假阳性,缓解了焦虑和改善了患者管理.

关键词:
这是ABCD1基因.与X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy有关,而X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy有关,而X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy与X结合的 adrenoleukodystrophy有关.lysophosphatidylcholine 溶解胺基胆的使用情况新生儿查 新生儿查风险分层的风险分层.不确定意义的变体.

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