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Last Updated: 10/31/2025
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Found 213 publications
Novel MCT8 mutation: diagnostic value of T3/T4 ratio.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: August 09, 2025
MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.
Journal: International journal of neonatal screening
Published: June 16, 2025
Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?
Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?
Journal: International journal of neonatal screening
Published: May 28, 2025
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
Last Updated: 10/31/2025