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Last Updated: 08/17/2025
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Found 210 publications
The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.
Journal: HGG advances
Published: March 25, 2025
Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.
Journal: Stem cell research
Published: February 21, 2025
Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A.
Journal: European thyroid journal
Published: January 05, 2025
MCT8 deficiency in females.
Journal: The Journal of clinical endocrinology and metabolism
Published: December 28, 2024
Maternal thyroid hormone is required to develop the hindbrain vasculature in zebrafish.
Journal: Communications biology
Published: December 17, 2024
Swallowing Assessment in a Pediatric Case of Allan-Herndon-Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing.
Journal: Neuropediatrics
Published: December 16, 2024
Cryo-EM structure of the human monocarboxylate transporter 10.
Journal: Structure (London, England : 1993)
Published: November 28, 2024
Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.
Journal: Methods in molecular biology (Clifton, N.J.)
Published: November 23, 2024
Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.
Journal: Cell
Published: October 26, 2024
Last Updated: 08/17/2025