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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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Detalles Bibliográficos
Autores principales: van Geest, Ferdy S., Gunhanlar, Nilhan, Groeneweg, Stefan, Visser, W. Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8440930/
https://www.ncbi.nlm.nih.gov/pubmed/34539576
http://dx.doi.org/10.3389/fendo.2021.723750

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