Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review
Monocarboxylate transporter 8 (MCT8) deficiency is a rare, X-linked disorder arising from mutations in the SLC16A2 gene and resulting from dysfunctional thyroid hormone transport. This disorder is characterized by profound neurodevelopmental delay and motor disability due to a lack of thyroid hormon...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Frontiers Media S.A.
2024-07-01
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| シリーズ: | Frontiers in Pediatrics |
| 主題: | |
| オンライン･アクセス: | https://www.frontiersin.org/articles/10.3389/fped.2024.1444919/full |
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