Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development

Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a combination of severe intellectual and motor disability, caused by decreased cerebral thyroid hormone signalling, and a chronic thyrotoxic state in p...

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Bibliographic Details
Main Authors: Ferdy S. van Geest, Nilhan Gunhanlar, Stefan Groeneweg, W. Edward Visser
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-09-01
Series:Frontiers in Endocrinology
Subjects:
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2021.723750/full