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患有MCT8缺乏症的男孩的甲酸治疗:改善甲状腺功能测试和可能的肝毒性

Felix Schreiner1, Heike Vollbach1, Niklas Sonntag2

  • 1Pediatric Endocrinology Division, Children's Hospital, University Hospital Bonn, 53127 Bonn, Germany.

The Journal of clinical endocrinology and metabolism
|May 23, 2024
PubMed
概括

一个患有单碳酸转运体8 (MCT8) 缺乏症的男孩的基酸盐 (PB) 治疗改善了甲状腺激素水平,并显示了轻微的神经发育收益. 然而,PBPB却没有.

关键词:
在 SLC16A2 中.艾伦-赫伦顿-达德利综合征 (Allan-Herndon-Dudley syndrome) 是一种症状,它可以发生在每一个人身上.在MCT8中,MCT8是MCT8.一个化学的伴侣.肝毒性 肝毒性 肝毒性基酸 (Phenylbutyrate) 是一种基酸.

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