Real-world tiratricol treatment outcomes and the importance of early detection and multidisciplinary teams in MCT8 deficiency: A case report
Monocarboxylate transporter 8 (MCT8) deficiency, also known as Allan–Herndon–Dudley syndrome, is a rare genetic disorder affecting thyroid hormone transport. It is characterised by severely debilitating neurodevelopmental and endocrinological impairments, further complicated by numerous diagnostic c...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Elsevier
2025-12-01
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| Σειρά: | Journal of Clinical and Translational Endocrinology Case Reports |
| Θέματα: | |
| Διαθέσιμο Online: | http://www.sciencedirect.com/science/article/pii/S2214624525000218 |
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