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Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review

22 Jul 2024

Abstract excerpt

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 hormone in the brain, and coexisting endocrinological symptoms, due to chronic thyrotoxicosis, resulting from elevated thyroid hormone outside the central nervous system (CNS). In February 2024, we reviewed the published literature to...

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PMID: 39132310
DOI: 10.3389/fped.2024.1444919

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