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MCT8 deficiency Point of a neurological view

Year: 2025
Type: article
Abstract: Monocarboxylate Transporter 8 (MCT8) deficiency, or Allan Herndon Dudley Syndrome (AHDS), is a rare X linked disorder characterized by impaired neuronal uptake of thyroid hormone, leading to severe neurodevelopmental delay and characteristic laboratory findings.
Language: English
Field: Medicine
Open Access status: bronze
OpenAlex ID: W7127272475
FWCI:
Cites: 13
Cited by:
Related to: 10